Malignant rhabdoid tumor: Difference between revisions
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{{CMG}}{{AE}}{{SR}} | {{CMG}}{{AE}} {{IO}}, {{SR}} | ||
{{SK}} Malignant rhabdoid tumour; Malignant rhabdoid neoplasm; Atypical teratoid rhabdoid tumor | {{SK}} Malignant rhabdoid tumour; Malignant rhabdoid neoplasm; Atypical teratoid rhabdoid tumor | ||
==Overview== | ==Overview== | ||
Malignant rhabdoid tumor is an aggressive [[tumor]] in the [[Pediatrics|pediatric]] population. It commonly starts in the [[kidney]] (rhabdoid tumor of the [[kidney]]) but it can occur in other soft tissues (extrarenal malignant rhabdoid [[tumor]]) and the [[brain]] (atypical teratoid rhabdoid tumor). It was originally believed to be a rhabdomyosarcomatoid variant of [[Wilms' tumor]] because of the cells resemblance to rhabdomyoblasts. It was later determined to be its own distinct clinicopathologic entity because the cells could not demonstrate [[myogenic]] differentiation on [[immunohistochemical]] studies. Malignant rhabdoid tumor of the [[kidney]] accounts for about 2% of all pediatric [[renal]] [[malignancies]]. The exact cause is unknown but it has been shown to be associated with the mutation of [[SMARCB1]]/INI-1 which is a [[tumor suppressor gene]]. It may be associated with conditions such as [[ependymoma]] and [[astrocytoma]]. Some of the [[histological]] characteristics of malignant rhabdoid tumor include [[eosinophilic]] [[cytoplasmic]] inclusions, [[vesicular]] [[nucleus]] with prominent [[nucleoli]], and moderate to abundant [[eosinophilic]] [[cytoplasm]]. The incidence of malignant rhabdoid tumor of the [[kidney]] is approximately 0.019 per 100,000 individuals per year in the US. Though the [[tumor]] is seen mostly in infants, some cases have been reported in adults. The [[prognosis]] is poor with the overall [[survival rate]] being low. [[Metastasis]] is a common cause of death in these patients and most of the [[Tumor|tumors]] [[metastasize]] early. Patients experience [[Symptom|symptoms]] based on the location of the [[tumor]]. Patients with [[Tumor|tumors]] in the [[liver]] may experience [[abdominal pain]], [[fever]], [[irritability]]. Those with [[Tumor|tumors]] in the [[brain]] present with [[headache]], [[ataxia]], [[nystagmus]]. [[Imaging]] modalities that may be used in the [[diagnosis]] of malignant rhabdoid tumor include [[Computed tomography|CT scan]] and [[Magnetic resonance imaging|MRI]]. They have different findings depending on the [[tumor]] location. The treatment depends on the character of the [[tumor]] and the circumstances that surround it. Some may be treated with [[Surgery|surgical excision]] and [[chemotherapy]]/[[Radiation therapy|radiotherapy]]. Some [[Tumor|tumors]] cannot be treated [[Surgery|surgically]] and may need to rely on [[chemotherapy]]. Some common [[chemotherapeutic agents]] used include [[vincristine]], [[cyclophosphamide]], [[doxorubicin]], and [[ifosfamide]]. | |||
* | |||
* | ==Historical Perspective== | ||
*In 1978, Beckwith and Palmar first described malignant rhabdoid [[tumor]] of the [[kidney]] as a "rhabdomyosarcomatoid variant of [[Wilms' tumor|wilms tumor]]" because the [[Cells (biology)|cells]] resembled rhabdomyoblasts. Although with further studies, it was recognized as a distinct clinicopathologic entity because of the inability to demonstrate [[myogenic]] differentiation.<ref name="pmid24982576">{{cite journal| author=Podduturi V, Campa-Thompson MM, Zhou XJ, Guileyardo JM| title=Malignant rhabdoid tumor of the kidney arising in an adult patient. | journal=Proc (Bayl Univ Med Cent) | year= 2014 | volume= 27 | issue= 3 | pages= 239-41 | pmid=24982576 | doi=10.1080/08998280.2014.11929125 | pmc=4059580 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24982576 }} </ref><ref name="Sijmons2008">{{cite journal|last1=Sijmons|first1=Rolf H|title=Encyclopaedia of tumour-associated familial disorders. Part I: from AIMAH to CHIME syndrome|journal=Hereditary Cancer in Clinical Practice|volume=6|issue=1|year=2008|pages=22|issn=1897-4287|doi=10.1186/1897-4287-6-1-22}}</ref> | |||
*In 1982, Gonzalez-Crussi et al first described malignant rhabdoid [[tumor]] of the [[liver]].<ref name="pmid24604983">{{cite journal| author=Agarwala S, Jindal B, Jana M, Bhatnagar V, Gupta AK, Iyer VK| title=Malignant rhabdoid tumor of liver. | journal=J Indian Assoc Pediatr Surg | year= 2014 | volume= 19 | issue= 1 | pages= 38-40 | pmid=24604983 | doi=10.4103/0971-9261.125961 | pmc=3935299 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24604983 }} </ref><ref name="pmid7200394">{{cite journal| author=Gonzalez-Crussi F, Goldschmidt RA, Hsueh W, Trujillo YP| title=Infantile sarcoma with intracytoplasmic filamentous inclusions: distinctive tumor of possible histiocytic origin. | journal=Cancer | year= 1982 | volume= 49 | issue= 11 | pages= 2365-75 | pmid=7200394 | doi=10.1002/1097-0142(19820601)49:11<2365::aid-cncr2820491125>3.0.co;2-i | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7200394 }} </ref> | |||
* | *In 1989, Rootman et al were the first to originally describe primary malignant [[tumor]] of the [[orbit]].<ref name="pmid19390226">{{cite journal| author=Kook KH, Park MS, Yim H, Lee SY, Jang JW, Grossniklaus HE| title=A case of congenital orbital malignant rhabdoid tumor: systemic metastasis following exenteration. | journal=Ophthalmologica | year= 2009 | volume= 223 | issue= 4 | pages= 274-8 | pmid=19390226 | doi=10.1159/000213643 | pmc=2988226 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19390226 }} </ref><ref name="pmid2694050">{{cite journal| author=Rootman J, Damji KF, Dimmick JE| title=Malignant rhabdoid tumor of the orbit. | journal=Ophthalmology | year= 1989 | volume= 96 | issue= 11 | pages= 1650-4 | pmid=2694050 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2694050 }} </ref> | ||
==Classification== | |||
There is no established system for the classification of malignant rhabdoid tumor. | |||
==Pathophysiology== | ==Pathophysiology== | ||
*Malignant rhabdoid tumor is a rare and aggressive tumor commonly seen in young children. It commonly arises | *Malignant rhabdoid tumor is a rare and aggressive [[tumor]] commonly seen in young children. It commonly arises in the [[kidney]] but can be seen in various sites including the [[liver]], [[pelvis]], [[CNS]], [[abdomen]], [[heart]] and other [[Soft tissue|soft tissues]].<ref name="pmid24604983">{{cite journal| author=Agarwala S, Jindal B, Jana M, Bhatnagar V, Gupta AK, Iyer VK| title=Malignant rhabdoid tumor of liver. | journal=J Indian Assoc Pediatr Surg | year= 2014 | volume= 19 | issue= 1 | pages= 38-40 | pmid=24604983 | doi=10.4103/0971-9261.125961 | pmc=3935299 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24604983 }} </ref> | ||
*Cytogenetic and molecular analyses have shown that the deletion of chromosome 22q11.2 may be associated with malignant rhabdoid tumor. Through this deletion, which is bi-allelic, the INI-1 tumor suppressor gene was discovered and its mutation is believed to contribute to the oncogenesis of renal and extrarenal malignant rhabdoid tumors.<ref name="pmid24982576">{{cite journal| author=Podduturi V, Campa-Thompson MM, Zhou XJ, Guileyardo JM| title=Malignant rhabdoid tumor of the kidney arising in an adult patient. | journal=Proc (Bayl Univ Med Cent) | year= 2014 | volume= 27 | issue= 3 | pages= 239-41 | pmid=24982576 | doi=10.1080/08998280.2014.11929125 | pmc=4059580 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24982576 }} </ref><ref name="pmid9671307">{{cite journal| author=Versteege I, Sévenet N, Lange J, Rousseau-Merck MF, Ambros P, Handgretinger R et al.| title=Truncating mutations of hSNF5/INI1 in aggressive paediatric cancer. | journal=Nature | year= 1998 | volume= 394 | issue= 6689 | pages= 203-6 | pmid=9671307 | doi=10.1038/28212 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9671307 }} </ref> | *[[Cytogenetic]] and [[molecular]] analyses have shown that the [[Deletion (genetics)|deletion]] of [[chromosome]] 22q11.2 may be associated with the development of malignant rhabdoid tumor. Through this [[Deletion (genetics)|deletion]], which is bi-allelic, the [[SMARCB1]]/INI-1 (integrase interactor 1) [[tumor suppressor gene]] was discovered and its [[mutation]] is believed to contribute to the [[oncogenesis]] of [[renal]] and extrarenal malignant rhabdoid tumors.<ref name="pmid24982576">{{cite journal| author=Podduturi V, Campa-Thompson MM, Zhou XJ, Guileyardo JM| title=Malignant rhabdoid tumor of the kidney arising in an adult patient. | journal=Proc (Bayl Univ Med Cent) | year= 2014 | volume= 27 | issue= 3 | pages= 239-41 | pmid=24982576 | doi=10.1080/08998280.2014.11929125 | pmc=4059580 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24982576 }} </ref><ref name="pmid9671307">{{cite journal| author=Versteege I, Sévenet N, Lange J, Rousseau-Merck MF, Ambros P, Handgretinger R et al.| title=Truncating mutations of hSNF5/INI1 in aggressive paediatric cancer. | journal=Nature | year= 1998 | volume= 394 | issue= 6689 | pages= 203-6 | pmid=9671307 | doi=10.1038/28212 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9671307 }} </ref> | ||
*The tumors may emerge in different ways, either through tumor progression from other types of neoplasms or de novo from | *The [[Tumor|tumors]] may emerge in different ways, either through [[tumor]] progression from other types of [[Neoplasm|neoplasms]] or [[de novo]] from non-neoplastic [[Cell (biology)|cells]]. When it arises from other [[Neoplasm|neoplasms]] with other nonrhabdoid [[tumor]] components discovered, the [[Tumor|tumors]] are called composite malignant rhabdoid tumors.<ref name="pmid10809224">{{cite journal| author=Ogino S, Ro TY, Redline RW| title=Malignant rhabdoid tumor: A phenotype? An entity?--A controversy revisited. | journal=Adv Anat Pathol | year= 2000 | volume= 7 | issue= 3 | pages= 181-90 | pmid=10809224 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10809224 }} </ref> | ||
*Rhabdoid tumors can arise in parts of the body outside the kidney such as the urinary bladder, gastrointestinal tract, mediastinum, liver, soft tissue, | *Rhabdoid [[Tumor|tumors]] can arise in parts of the body outside the [[kidney]] such as the [[urinary bladder]], [[gastrointestinal tract]], [[mediastinum]], [[liver]], [[soft tissue]], [[Orbit (anatomy)|orbit]], [[uterus]], and [[central nervous system]]. When it arises in the [[CNS]], it is called atypical teratoid rhabdoid [[tumor]].<ref name="pmid24982576">{{cite journal| author=Podduturi V, Campa-Thompson MM, Zhou XJ, Guileyardo JM| title=Malignant rhabdoid tumor of the kidney arising in an adult patient. | journal=Proc (Bayl Univ Med Cent) | year= 2014 | volume= 27 | issue= 3 | pages= 239-41 | pmid=24982576 | doi=10.1080/08998280.2014.11929125 | pmc=4059580 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24982576 }} </ref> | ||
* | *Conditions associated with malignant rhabdoid [[tumor]] include [[Pancreas|pancreatic]] [[neuroendocrine tumors]], [[ependymoma]], and [[astrocytoma]].<ref name="WingerBuyuk2006">{{cite journal|last1=Winger|first1=David I.|last2=Buyuk|first2=Arzu|last3=Bohrer|first3=Stuart|last4=Turi|first4=George K.|last5=Scimeca|first5=Phillip|last6=Price|first6=Anita P.|last7=Katz|first7=Douglas S.|title=Radiology–Pathology Conference: rhabdoid tumor of the kidney|journal=Clinical Imaging|volume=30|issue=2|year=2006|pages=132–136|issn=08997071|doi=10.1016/j.clinimag.2005.09.027}}</ref> | ||
*On gross pathology, malignant rhabdoid tumor of the kidney is characterized by poorly circumscribed soft tan lesion with areas of necrosis. There may be numerous tan-gray nodules present within.<ref name="pmid24982576">{{cite journal| author=Podduturi V, Campa-Thompson MM, Zhou XJ, Guileyardo JM| title=Malignant rhabdoid tumor of the kidney arising in an adult patient. | journal=Proc (Bayl Univ Med Cent) | year= 2014 | volume= 27 | issue= 3 | pages= 239-41 | pmid=24982576 | doi=10.1080/08998280.2014.11929125 | pmc=4059580 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24982576 }} </ref><ref name="pmid24604983">{{cite journal| author=Agarwala S, Jindal B, Jana M, Bhatnagar V, Gupta AK, Iyer VK| title=Malignant rhabdoid tumor of liver. | journal=J Indian Assoc Pediatr Surg | year= 2014 | volume= 19 | issue= 1 | pages= 38-40 | pmid=24604983 | doi=10.4103/0971-9261.125961 | pmc=3935299 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24604983 }} </ref> | *On [[gross pathology]], malignant rhabdoid [[tumor]] of the [[kidney]] is characterized by poorly circumscribed soft tan [[lesion]] with areas of [[necrosis]]. There may be numerous tan-gray [[Nodule (medicine)|nodules]] present within.<ref name="pmid24982576">{{cite journal| author=Podduturi V, Campa-Thompson MM, Zhou XJ, Guileyardo JM| title=Malignant rhabdoid tumor of the kidney arising in an adult patient. | journal=Proc (Bayl Univ Med Cent) | year= 2014 | volume= 27 | issue= 3 | pages= 239-41 | pmid=24982576 | doi=10.1080/08998280.2014.11929125 | pmc=4059580 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24982576 }} </ref><ref name="pmid24604983">{{cite journal| author=Agarwala S, Jindal B, Jana M, Bhatnagar V, Gupta AK, Iyer VK| title=Malignant rhabdoid tumor of liver. | journal=J Indian Assoc Pediatr Surg | year= 2014 | volume= 19 | issue= 1 | pages= 38-40 | pmid=24604983 | doi=10.4103/0971-9261.125961 | pmc=3935299 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24604983 }} </ref> | ||
*On microscopic histopathological analysis, malignant rhabdoid tumor is characterized by:<ref name="pmid24982576">{{cite journal| author=Podduturi V, Campa-Thompson MM, Zhou XJ, Guileyardo JM| title=Malignant rhabdoid tumor of the kidney arising in an adult patient. | journal=Proc (Bayl Univ Med Cent) | year= 2014 | volume= 27 | issue= 3 | pages= 239-41 | pmid=24982576 | doi=10.1080/08998280.2014.11929125 | pmc=4059580 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24982576 }} </ref><ref name="pmid24604983">{{cite journal| author=Agarwala S, Jindal B, Jana M, Bhatnagar V, Gupta AK, Iyer VK| title=Malignant rhabdoid tumor of liver. | journal=J Indian Assoc Pediatr Surg | year= 2014 | volume= 19 | issue= 1 | pages= 38-40 | pmid=24604983 | doi=10.4103/0971-9261.125961 | pmc=3935299 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24604983 }} </ref> | *On microscopic [[Histopathology|histopathological]] analysis, malignant rhabdoid [[tumor]] is characterized by:<ref name="pmid24982576">{{cite journal| author=Podduturi V, Campa-Thompson MM, Zhou XJ, Guileyardo JM| title=Malignant rhabdoid tumor of the kidney arising in an adult patient. | journal=Proc (Bayl Univ Med Cent) | year= 2014 | volume= 27 | issue= 3 | pages= 239-41 | pmid=24982576 | doi=10.1080/08998280.2014.11929125 | pmc=4059580 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24982576 }} </ref><ref name="pmid24604983">{{cite journal| author=Agarwala S, Jindal B, Jana M, Bhatnagar V, Gupta AK, Iyer VK| title=Malignant rhabdoid tumor of liver. | journal=J Indian Assoc Pediatr Surg | year= 2014 | volume= 19 | issue= 1 | pages= 38-40 | pmid=24604983 | doi=10.4103/0971-9261.125961 | pmc=3935299 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24604983 }} </ref> | ||
:* Round or polygonal cells | |||
:* Sheets of anaplastic, noncohesive tumor cells with eccentric nuclei | :* Round or polygonal [[Cell (biology)|cells]] | ||
:* Large, vesicular nucleus with prominent nucleoli and moderate to abundant eosinophilic cytoplasm | :* Sheets of [[anaplastic]], noncohesive [[tumor]] cells with eccentric [[nuclei]] | ||
:* Eosinophilic, fibrillar cytoplasmic inclusions | :* Large, [[vesicular]] [[nucleus]] with prominent [[nucleoli]] and moderate to abundant [[eosinophilic]] [[cytoplasm]] | ||
:* Intravascular tumor within adjacent soft tissues | :*[[Eosinophilic]], fibrillar [[cytoplasmic]] inclusions | ||
:*[[Intravascular]] [[tumor]] within adjacent [[Soft tissue|soft tissues]] | |||
* | |||
[[File:MRT histopathology.jpg|400px|thumb|left|Histopathology specimen showing atypical teratoid rhabdoid tumor [https://commons.wikimedia.org/wiki/File:Neuropathology_case_IV_03.jpg source: Jensflorian ]]] | |||
<br style="clear:left" /> | |||
* | |||
* It has a similar superficial [[Histology|histological]] resemblance with rhabdomyosarcoma with tangles of [[vimentin]] [[filaments]] in the [[eosinophilic]] [[cytoplasm]]. The difference is the absence of [[actin]] and [[myosin]] in the [[cytoplasm]] which are present in [[Tumor|tumors]] of [[myogenic]] origin.<ref name="WingerBuyuk2006">{{cite journal|last1=Winger|first1=David I.|last2=Buyuk|first2=Arzu|last3=Bohrer|first3=Stuart|last4=Turi|first4=George K.|last5=Scimeca|first5=Phillip|last6=Price|first6=Anita P.|last7=Katz|first7=Douglas S.|title=Radiology–Pathology Conference: rhabdoid tumor of the kidney|journal=Clinical Imaging|volume=30|issue=2|year=2006|pages=132–136|issn=08997071|doi=10.1016/j.clinimag.2005.09.027}}</ref> | |||
* On [[Immunohistochemistry|immunohistochemical]] studies, [[malignant]] rhabdoid [[tumor]] [[Cell (biology)|cells]] are positive for [[vimentin]] and pancytokeratin (AE 1–3), but negative for [[desmin]], [[myoglobin]], and S100.<ref name="pmid24982576">{{cite journal| author=Podduturi V, Campa-Thompson MM, Zhou XJ, Guileyardo JM| title=Malignant rhabdoid tumor of the kidney arising in an adult patient. | journal=Proc (Bayl Univ Med Cent) | year= 2014 | volume= 27 | issue= 3 | pages= 239-41 | pmid=24982576 | doi=10.1080/08998280.2014.11929125 | pmc=4059580 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24982576 }} </ref> | |||
*According to the Children’s Oncology Group (COG) staging system, there are 5 stages of malignant rhabdoid tumor.{{cite web |url=https://childrensoncologygroup.org/index.php/44-patientsandfamilies/typesofchildrenscancer?start=36 |title=Types of Children's Cancer |format= |work= |accessdate=}} | |||
{| style="border: 0px; font-size: 90%; margin: 3px; width:650px" | {| style="border: 0px; font-size: 90%; margin: 3px; width:650px" | ||
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==Causes== | |||
There is no clear cause of malignant rhabdoid [[tumor]] but it is believed that the loss-of-function [[mutation]] of [[SMARCB1]] tumor suppression gene contributes to the [[oncogenesis]].<ref name="pmid24982576">{{cite journal| author=Podduturi V, Campa-Thompson MM, Zhou XJ, Guileyardo JM| title=Malignant rhabdoid tumor of the kidney arising in an adult patient. | journal=Proc (Bayl Univ Med Cent) | year= 2014 | volume= 27 | issue= 3 | pages= 239-41 | pmid=24982576 | doi=10.1080/08998280.2014.11929125 | pmc=4059580 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24982576 }} </ref><ref name="pmid9671307">{{cite journal| author=Versteege I, Sévenet N, Lange J, Rousseau-Merck MF, Ambros P, Handgretinger R et al.| title=Truncating mutations of hSNF5/INI1 in aggressive paediatric cancer. | journal=Nature | year= 1998 | volume= 394 | issue= 6689 | pages= 203-6 | pmid=9671307 | doi=10.1038/28212 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9671307 }} </ref> | |||
==Differentiating Malignant Rhabdoid Tumor from Other Diseases== | ==Differentiating Malignant Rhabdoid Tumor from Other Diseases== | ||
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}}</ref> | }}</ref> | ||
{| class="wikitable" | {| class="wikitable" | ||
! rowspan="2" |S.No. | ! rowspan="2" style="background:#4479BA; color: #FFFFFF;" + |S.No. | ||
! rowspan="2" |Disease | ! rowspan="2" style="background:#4479BA; color: #FFFFFF;" + |Disease | ||
! colspan="3" |Symptoms | ! colspan="3" style="background:#4479BA; color: #FFFFFF;" + |Symptoms | ||
! colspan="2" |Signs | ! colspan="2" style="background:#4479BA; color: #FFFFFF;" + |Signs | ||
! colspan="3" |Diagnosis | ! colspan="3" style="background:#4479BA; color: #FFFFFF;" + |Diagnosis | ||
! rowspan="2" |Comments | ! rowspan="2" style="background:#4479BA; color: #FFFFFF;" + |Comments | ||
|- | |- | ||
!Abdominal Pain | ! style="background:#4479BA; color: #FFFFFF;" + |Abdominal Pain | ||
!Hematuria | ! style="background:#4479BA; color: #FFFFFF;" + |Hematuria | ||
!Headache | ! style="background:#4479BA; color: #FFFFFF;" + |Headache | ||
!Abdominal mass | ! style="background:#4479BA; color: #FFFFFF;" + |Abdominal mass | ||
!Abdominal tenderness | ! style="background:#4479BA; color: #FFFFFF;" + |Abdominal tenderness | ||
!Ultrasonography | ! style="background:#4479BA; color: #FFFFFF;" + |Ultrasonography | ||
!CT scan | ! style="background:#4479BA; color: #FFFFFF;" + |CT scan | ||
!Histology | ! style="background:#4479BA; color: #FFFFFF;" + |Histology | ||
|- | |- | ||
|1. | |1. | ||
|[[Rhabdoid tumor of the kidney]] | |||
| + | |||
|<nowiki>+</nowiki> | |||
|<nowiki>-</nowiki> | |||
|<nowiki>+</nowiki> | |||
|<nowiki>-</nowiki> | |||
| | |||
*[[Ultrasound]] shows a lobulated [[mass]] with [[heterogeneous]] [[echogenicity]]. | |||
| | |||
*[[CT]] scan may be diagnostic of malignant rhabdoid tumor. Findings on [[CT]] scan suggestive of malignant rhabdoid tumor include a large, heterogenous, centrally located mass, which is lobulated with individual lobules separated by intervening areas of decreased attenuation, relating to either previous [[hemorrhage]] or [[necrosis]]. Enhancement is similarly heterogeneous. [[Calcification]] is relatively common. | |||
| | |||
*[[Malignant]] rhabdoid tumor is characterized by the round blue tumor cells of high cellularity composed of atypical cells with eccentric nuclei, small nucleoli, and abundant amounts of [[eosinophilic]] cytoplasm with frequent mitotic figures. | |||
| | |||
|- | |||
|2. | |||
|[[Wilms' tumor|Wilms tumor]] | |[[Wilms' tumor|Wilms tumor]] | ||
|<nowiki>+</nowiki> | |<nowiki>+</nowiki> | ||
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| | | | ||
|- | |- | ||
| | |3. | ||
|[[Renal cell carcinoma]] | |[[Renal cell carcinoma]] | ||
|<nowiki>+</nowiki> | |<nowiki>+</nowiki> | ||
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|Both [[CT]] and [[MRI]] may be used to detect [[neoplastic]] masses that may define renal cell carcinoma or metastasis of the primary cancer. [[CT]] scan and use of intravenous (IV) contrast is generally used for work-up and follow-up of patients with [[Renal cell carcinoma|renal cell carcinom]]<nowiki/>a. | |Both [[CT]] and [[MRI]] may be used to detect [[neoplastic]] masses that may define renal cell carcinoma or metastasis of the primary cancer. [[CT]] scan and use of intravenous (IV) contrast is generally used for work-up and follow-up of patients with [[Renal cell carcinoma|renal cell carcinom]]<nowiki/>a. | ||
|The histological pattern of renal cell [[carcinoma]] depends whether it is [[Papillary|papillary,]] [[chromophobe]] or [[collecting duct]] renal cell carcinoma. | |The histological pattern of renal cell [[carcinoma]] depends whether it is [[Papillary|papillary,]] [[chromophobe]] or [[collecting duct]] renal cell carcinoma. | ||
| | | | ||
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* CT is the preferred imaging modality for the diagnosis of pheochromocytoma. | * CT is the preferred imaging modality for the diagnosis of pheochromocytoma. | ||
|The following findings may be observed on [[CT scan]]:<ref name="pmid1787652">{{cite journal| author=Bravo EL| title=Pheochromocytoma: new concepts and future trends. | journal=Kidney Int | year= 1991 | volume= 40 | issue= 3 | pages= 544-56 | pmid=1787652 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=1787652 }}</ref> | |The following findings may be observed on [[CT scan]]:<ref name="pmid1787652">{{cite journal| author=Bravo EL| title=Pheochromocytoma: new concepts and future trends. | journal=Kidney Int | year= 1991 | volume= 40 | issue= 3 | pages= 544-56 | pmid=1787652 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=1787652 }}</ref> | ||
*Most common extra-[[Adrenal gland|adrenal]] locations are superior and inferior [[abdominal]] [[Paraaortic lymph node|paraaortic]] areas, the [[urinary bladder]], [[thorax]], [[head]], [[neck]] and [[pelvis]].<ref name="pmid1729490">{{cite journal| author=Whalen RK, Althausen AF, Daniels GH| title=Extra-adrenal pheochromocytoma. | journal=J Urol | year= 1992 | volume= 147 | issue= 1 | pages= 1-10 | pmid=1729490 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=1729490 }}</ref> | *Most common extra-[[Adrenal gland|adrenal]] locations are superior and inferior [[abdominal]] [[Paraaortic lymph node|paraaortic]] areas, the [[urinary bladder]], [[thorax]], [[head]], [[neck]] and [[pelvis]].<ref name="pmid1729490">{{cite journal| author=Whalen RK, Althausen AF, Daniels GH| title=Extra-adrenal pheochromocytoma. | journal=J Urol | year= 1992 | volume= 147 | issue= 1 | pages= 1-10 | pmid=1729490 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=1729490 }}</ref> | ||
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==Epidemiology and Demographics== | ==Epidemiology and Demographics== | ||
*Although malignant rhabdoid tumors usually affect children, some cases in adults have been reported with the age at diagnosis ranging from 32 to 60 years.<ref name="pmid24982576">{{cite journal| author=Podduturi V, Campa-Thompson MM, Zhou XJ, Guileyardo JM| title=Malignant rhabdoid tumor of the kidney arising in an adult patient. | journal=Proc (Bayl Univ Med Cent) | year= 2014 | volume= 27 | issue= 3 | pages= 239-41 | pmid=24982576 | doi=10.1080/08998280.2014.11929125 | pmc=4059580 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24982576 }} </ref> | *The [[incidence]] of malignant rhabdoid tumor of the [[kidney]] is approximately 0.019 per 100,000 individuals per year in the US. That of atypical teratoid/rhabdoid [[tumor]] is 0.089 per 100,000 per year, and 0.032 per 1000,000 yearly for the [[Tumor|tumors]] found in other sites.<ref name="pmid22434719">{{cite journal| author=Heck JE, Lombardi CA, Cockburn M, Meyers TJ, Wilhelm M, Ritz B| title=Epidemiology of rhabdoid tumors of early childhood. | journal=Pediatr Blood Cancer | year= 2013 | volume= 60 | issue= 1 | pages= 77-81 | pmid=22434719 | doi=10.1002/pbc.24141 | pmc=3399923 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=22434719 }} </ref> | ||
*Malignant rhabdoid tumor of the [[kidney]] accounts for about 2% of all [[Pediatrics|pediatric]] [[renal]] [[malignancies]].<ref name="WingerBuyuk2006">{{cite journal|last1=Winger|first1=David I.|last2=Buyuk|first2=Arzu|last3=Bohrer|first3=Stuart|last4=Turi|first4=George K.|last5=Scimeca|first5=Phillip|last6=Price|first6=Anita P.|last7=Katz|first7=Douglas S.|title=Radiology–Pathology Conference: rhabdoid tumor of the kidney|journal=Clinical Imaging|volume=30|issue=2|year=2006|pages=132–136|issn=08997071|doi=10.1016/j.clinimag.2005.09.027}}</ref> | |||
*The [[mortality rate]] of malignant rhabdoid tumor is approximately 80%.<ref name="GündüzShields1998">{{cite journal|last1=Gündüz|first1=Kaan|last2=Shields|first2=Jerry A.|last3=Eagle|first3=Ralph C.|last4=Shields|first4=Carol L.|last5=De Potter|first5=Patrick|last6=Klombers|first6=Lee|title=Malignant Rhabdoid Tumor of the Orbit|journal=Archives of Ophthalmology|volume=116|issue=2|year=1998|issn=0003-9950|doi=10.1001/archopht.116.2.243}}</ref> | |||
*It mostly occur in infants. The median reported age is about 22.5 months.<ref name="pmid21775180">{{cite journal| author=Savage N, Linn D, McDonough C, Donohoe JM, Franco A, Reuter V et al.| title=Molecularly confirmed primary malignant rhabdoid tumor of the urinary bladder: implications of accurate diagnosis. | journal=Ann Diagn Pathol | year= 2012 | volume= 16 | issue= 6 | pages= 504-7 | pmid=21775180 | doi=10.1016/j.anndiagpath.2011.04.008 | pmc=3448015 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21775180 }} </ref> | |||
*Although malignant rhabdoid tumors usually affect children, some cases in adults have been reported with the age at [[diagnosis]] ranging from 32 to 60 years.<ref name="pmid24982576">{{cite journal| author=Podduturi V, Campa-Thompson MM, Zhou XJ, Guileyardo JM| title=Malignant rhabdoid tumor of the kidney arising in an adult patient. | journal=Proc (Bayl Univ Med Cent) | year= 2014 | volume= 27 | issue= 3 | pages= 239-41 | pmid=24982576 | doi=10.1080/08998280.2014.11929125 | pmc=4059580 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24982576 }} </ref> | |||
*It affects females and males equally.<ref name="pmid22434719">{{cite journal| author=Heck JE, Lombardi CA, Cockburn M, Meyers TJ, Wilhelm M, Ritz B| title=Epidemiology of rhabdoid tumors of early childhood. | journal=Pediatr Blood Cancer | year= 2013 | volume= 60 | issue= 1 | pages= 77-81 | pmid=22434719 | doi=10.1002/pbc.24141 | pmc=3399923 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=22434719 }} </ref> | |||
==Risk Factors== | |||
There are no established [[Risk factor|risk factors]] for malignant rhabdoid tumor.<ref name="HorazdovskyManivel2013">{{cite journal|last1=Horazdovsky|first1=Ryan|last2=Manivel|first2=J. Carlos|last3=Cheng|first3=Edward Y.|title=Surgery and Actinomycin Improve Survival in Malignant Rhabdoid Tumor|journal=Sarcoma|volume=2013|year=2013|pages=1–8|issn=1357-714X|doi=10.1155/2013/315170}}</ref> | |||
==Screening== | |||
There is insufficient evidence to recommend routine screening for malignant rhabdoid tumor. | |||
==Natural History, Complications, and Prognosis== | ==Natural History, Complications, and Prognosis== | ||
* Malignant rhabdoid tumor | * Malignant rhabdoid tumors are prone to [[metastasize]] early with [[metastasis]] being the most common cause of death among patients. Most cases may have already [[metastasized]] before the [[diagnosis]] is made.<ref name="pmid21775180">{{cite journal| author=Savage N, Linn D, McDonough C, Donohoe JM, Franco A, Reuter V et al.| title=Molecularly confirmed primary malignant rhabdoid tumor of the urinary bladder: implications of accurate diagnosis. | journal=Ann Diagn Pathol | year= 2012 | volume= 16 | issue= 6 | pages= 504-7 | pmid=21775180 | doi=10.1016/j.anndiagpath.2011.04.008 | pmc=3448015 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21775180 }} </ref><ref name="GündüzShields1998">{{cite journal|last1=Gündüz|first1=Kaan|last2=Shields|first2=Jerry A.|last3=Eagle|first3=Ralph C.|last4=Shields|first4=Carol L.|last5=De Potter|first5=Patrick|last6=Klombers|first6=Lee|title=Malignant Rhabdoid Tumor of the Orbit|journal=Archives of Ophthalmology|volume=116|issue=2|year=1998|issn=0003-9950|doi=10.1001/archopht.116.2.243}}</ref> | ||
* Common complications of malignant rhabdoid tumor include spontaneous tumor rupture.<ref name="pmid24604983">{{cite journal| author=Agarwala S, Jindal B, Jana M, Bhatnagar V, Gupta AK, Iyer VK| title=Malignant rhabdoid tumor of liver. | journal=J Indian Assoc Pediatr Surg | year= 2014 | volume= 19 | issue= 1 | pages= 38-40 | pmid=24604983 | doi=10.4103/0971-9261.125961 | pmc=3935299 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24604983 }} </ref> | *In most cases, patients die at an average of 6 months after [[diagnosis]].<ref name="pmid20299301">{{cite journal| author=Abdullah A, Patel Y, Lewis TJ, Elsamaloty H, Strobel S| title=Extrarenal malignant rhabdoid tumors: radiologic findings with histopathologic correlation. | journal=Cancer Imaging | year= 2010 | volume= 10 | issue= | pages= 97-101 | pmid=20299301 | doi=10.1102/1470-7330.2010.0010 | pmc=2842174 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=20299301 }} </ref> | ||
* Common complications of malignant rhabdoid tumor include spontaneous [[tumor]] rupture and [[Thrombotic occlusion|thrombotic]] [[pulmonary]] [[microangiopathy]] ([[pulmonary]] [[tumor]] [[embolism]] [[syndrome]]) which may be seen in adult patients with [[metastasis]] to the [[Lung|lungs]].<ref name="pmid24604983">{{cite journal| author=Agarwala S, Jindal B, Jana M, Bhatnagar V, Gupta AK, Iyer VK| title=Malignant rhabdoid tumor of liver. | journal=J Indian Assoc Pediatr Surg | year= 2014 | volume= 19 | issue= 1 | pages= 38-40 | pmid=24604983 | doi=10.4103/0971-9261.125961 | pmc=3935299 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24604983 }} </ref><ref name="pmid24982576">{{cite journal| author=Podduturi V, Campa-Thompson MM, Zhou XJ, Guileyardo JM| title=Malignant rhabdoid tumor of the kidney arising in an adult patient. | journal=Proc (Bayl Univ Med Cent) | year= 2014 | volume= 27 | issue= 3 | pages= 239-41 | pmid=24982576 | doi=10.1080/08998280.2014.11929125 | pmc=4059580 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24982576 }} </ref> | |||
*The overall survival rate ranges from | *The 5-year [[survival rate]] of malignant rhabdoid tumor is 33%.<ref name="pmid22434719">{{cite journal| author=Heck JE, Lombardi CA, Cockburn M, Meyers TJ, Wilhelm M, Ritz B| title=Epidemiology of rhabdoid tumors of early childhood. | journal=Pediatr Blood Cancer | year= 2013 | volume= 60 | issue= 1 | pages= 77-81 | pmid=22434719 | doi=10.1002/pbc.24141 | pmc=3399923 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=22434719 }} </ref> | ||
*In adults, the prognosis is poor with the survival time after diagnosis being only a few months.<ref name="pmid24982576">{{cite journal| author=Podduturi V, Campa-Thompson MM, Zhou XJ, Guileyardo JM| title=Malignant rhabdoid tumor of the kidney arising in an adult patient. | journal=Proc (Bayl Univ Med Cent) | year= 2014 | volume= 27 | issue= 3 | pages= 239-41 | pmid=24982576 | doi=10.1080/08998280.2014.11929125 | pmc=4059580 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24982576 }} </ref> | *The overall [[survival rate]] ranges from between 22% to 42%.<ref name="pmid28843054">{{cite journal| author=Furtwängler R, Kager L, Melchior P, Rübe C, Ebinger M, Nourkami-Tutdibi N et al.| title=High-dose treatment for malignant rhabdoid tumor of the kidney: No evidence for improved survival-The Gesellschaft für Pädiatrische Onkologie und Hämatologie (GPOH) experience. | journal=Pediatr Blood Cancer | year= 2018 | volume= 65 | issue= 1 | pages= | pmid=28843054 | doi=10.1002/pbc.26746 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=28843054 }} </ref> | ||
*Factors associated with significantly reduced survival include metastases/multifocal disease, younger age, infratentorial location, and less than complete remission at the end of chemotherapy.<ref name="pmid28843054">{{cite journal| author=Furtwängler R, Kager L, Melchior P, Rübe C, Ebinger M, Nourkami-Tutdibi N et al.| title=High-dose treatment for malignant rhabdoid tumor of the kidney: No evidence for improved survival-The Gesellschaft für Pädiatrische Onkologie und Hämatologie (GPOH) experience. | journal=Pediatr Blood Cancer | year= 2018 | volume= 65 | issue= 1 | pages= | pmid=28843054 | doi=10.1002/pbc.26746 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=28843054 }} </ref><ref name="pmid21796761">{{cite journal| author=von Hoff K, Hinkes B, Dannenmann-Stern E, von Bueren AO, Warmuth-Metz M, Soerensen N et al.| title=Frequency, risk-factors and survival of children with atypical teratoid rhabdoid tumors (AT/RT) of the CNS diagnosed between 1988 and 2004, and registered to the German HIT database. | journal=Pediatr Blood Cancer | year= 2011 | volume= 57 | issue= 6 | pages= 978-85 | pmid=21796761 | doi=10.1002/pbc.23236 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21796761 }} </ref> | *In adults, the [[prognosis]] is poor with the survival time after [[diagnosis]] being only a few months.<ref name="pmid24982576">{{cite journal| author=Podduturi V, Campa-Thompson MM, Zhou XJ, Guileyardo JM| title=Malignant rhabdoid tumor of the kidney arising in an adult patient. | journal=Proc (Bayl Univ Med Cent) | year= 2014 | volume= 27 | issue= 3 | pages= 239-41 | pmid=24982576 | doi=10.1080/08998280.2014.11929125 | pmc=4059580 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24982576 }} </ref> | ||
*Neither tumor volume at diagnosis nor pre-operative chemosensitivity affects the outcome.<ref name="pmid21370404">{{cite journal| author=van den Heuvel-Eibrink MM, van Tinteren H, Rehorst H, Coulombe A, Patte C, de Camargo B et al.| title=Malignant rhabdoid tumours of the kidney (MRTKs), registered on recent SIOP protocols from 1993 to 2005: a report of the SIOP renal tumour study group. | journal=Pediatr Blood Cancer | year= 2011 | volume= 56 | issue= 5 | pages= 733-7 | pmid=21370404 | doi=10.1002/pbc.22922 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21370404 }} </ref> | *Factors associated with significantly reduced survival include [[Metastasis|metastases]]/multifocal disease, younger age, [[infratentorial]] location, and less than complete remission at the end of [[chemotherapy]].<ref name="pmid28843054">{{cite journal| author=Furtwängler R, Kager L, Melchior P, Rübe C, Ebinger M, Nourkami-Tutdibi N et al.| title=High-dose treatment for malignant rhabdoid tumor of the kidney: No evidence for improved survival-The Gesellschaft für Pädiatrische Onkologie und Hämatologie (GPOH) experience. | journal=Pediatr Blood Cancer | year= 2018 | volume= 65 | issue= 1 | pages= | pmid=28843054 | doi=10.1002/pbc.26746 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=28843054 }} </ref><ref name="pmid21796761">{{cite journal| author=von Hoff K, Hinkes B, Dannenmann-Stern E, von Bueren AO, Warmuth-Metz M, Soerensen N et al.| title=Frequency, risk-factors and survival of children with atypical teratoid rhabdoid tumors (AT/RT) of the CNS diagnosed between 1988 and 2004, and registered to the German HIT database. | journal=Pediatr Blood Cancer | year= 2011 | volume= 57 | issue= 6 | pages= 978-85 | pmid=21796761 | doi=10.1002/pbc.23236 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21796761 }} </ref> | ||
*Neither [[tumor]] volume at [[diagnosis]] nor pre-operative chemosensitivity affects the outcome.<ref name="pmid21370404">{{cite journal| author=van den Heuvel-Eibrink MM, van Tinteren H, Rehorst H, Coulombe A, Patte C, de Camargo B et al.| title=Malignant rhabdoid tumours of the kidney (MRTKs), registered on recent SIOP protocols from 1993 to 2005: a report of the SIOP renal tumour study group. | journal=Pediatr Blood Cancer | year= 2011 | volume= 56 | issue= 5 | pages= 733-7 | pmid=21370404 | doi=10.1002/pbc.22922 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21370404 }} </ref> | |||
==Diagnosis== | ==Diagnosis== | ||
===Diagnostic Study of Choice=== | |||
* The [[diagnosis]] of malignant rhabdoid tumor is based on characteristic [[histopathological]] features, which include large oval to polygonal [[Cell (biology)|cells]] with abundant [[eosinophilic]] [[cytoplasm]], large [[vesicular]] [[nuclei]] with prominent [[nucleoli]], and conspicuous [[filamentous]] [[cytoplasmic]] inclusions.<ref name="GündüzShields1998">{{cite journal|last1=Gündüz|first1=Kaan|last2=Shields|first2=Jerry A.|last3=Eagle|first3=Ralph C.|last4=Shields|first4=Carol L.|last5=De Potter|first5=Patrick|last6=Klombers|first6=Lee|title=Malignant Rhabdoid Tumor of the Orbit|journal=Archives of Ophthalmology|volume=116|issue=2|year=1998|issn=0003-9950|doi=10.1001/archopht.116.2.243}}</ref> | |||
*[[Immunohistochemistry]] is important in the [[diagnosis]] of malignant rhabdoid tumor. The [[tumor]] has a positive immunoreactivity for [[vimentin]], [[cytokeratin]] and [[epithelial]] [[membrane]] [[antigen]]. The [[tumor]] is usually positive for [[vimentin]] with that of [[cytokeratin]] and [[Epithelium|epithelial]] [[membrane]] [[antigen]] being variable. it's negative immunoreactivity for [[muscle]] markers, histiocytic markers, [[HMB-45]], and S100 [[protein]] helps to exclude [[myogenic]] and histiocytic [[Neoplasm|neoplasms]] and [[malignant melanoma]].<ref name="GündüzShields1998">{{cite journal|last1=Gündüz|first1=Kaan|last2=Shields|first2=Jerry A.|last3=Eagle|first3=Ralph C.|last4=Shields|first4=Carol L.|last5=De Potter|first5=Patrick|last6=Klombers|first6=Lee|title=Malignant Rhabdoid Tumor of the Orbit|journal=Archives of Ophthalmology|volume=116|issue=2|year=1998|issn=0003-9950|doi=10.1001/archopht.116.2.243}}</ref> | |||
===History and Symptoms=== | ===History and Symptoms=== | ||
*A positive history of fever | *Patients with malignant rhabdoid tumor of the [[kidney]] may have a positive history of [[fatigue]] and [[abdominal distension]].<ref name="pmid24982576">{{cite journal| author=Podduturi V, Campa-Thompson MM, Zhou XJ, Guileyardo JM| title=Malignant rhabdoid tumor of the kidney arising in an adult patient. | journal=Proc (Bayl Univ Med Cent) | year= 2014 | volume= 27 | issue= 3 | pages= 239-41 | pmid=24982576 | doi=10.1080/08998280.2014.11929125 | pmc=4059580 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24982576 }} </ref> | ||
*Common symptoms of malignant rhabdoid tumor of the liver include:<ref name="pmid24604983">{{cite journal| author=Agarwala S, Jindal B, Jana M, Bhatnagar V, Gupta AK, Iyer VK| title=Malignant rhabdoid tumor of liver. | journal=J Indian Assoc Pediatr Surg | year= 2014 | volume= 19 | issue= 1 | pages= 38-40 | pmid=24604983 | doi=10.4103/0971-9261.125961 | pmc=3935299 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24604983 }} </ref> | *A positive history of [[fever]] and [[abdominal distension]] is suggestive of malignant rhabdoid tumor of the [[liver]].<ref name="pmid24604983">{{cite journal| author=Agarwala S, Jindal B, Jana M, Bhatnagar V, Gupta AK, Iyer VK| title=Malignant rhabdoid tumor of liver. | journal=J Indian Assoc Pediatr Surg | year= 2014 | volume= 19 | issue= 1 | pages= 38-40 | pmid=24604983 | doi=10.4103/0971-9261.125961 | pmc=3935299 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24604983 }} </ref> | ||
:* Irritability | *Common [[symptoms]] of malignant rhabdoid tumor of the [[kidney]] include:<ref name="SislerSiegel1989">{{cite journal|last1=Sisler|first1=C L|last2=Siegel|first2=M J|title=Malignant rhabdoid tumor of the kidney: radiologic features.|journal=Radiology|volume=172|issue=1|year=1989|pages=211–212|issn=0033-8419|doi=10.1148/radiology.172.1.2544921}}</ref> | ||
:*[[Vomiting]] | |||
*Common [[symptoms]] of malignant rhabdoid tumor of the [[liver]] include:<ref name="pmid24604983">{{cite journal| author=Agarwala S, Jindal B, Jana M, Bhatnagar V, Gupta AK, Iyer VK| title=Malignant rhabdoid tumor of liver. | journal=J Indian Assoc Pediatr Surg | year= 2014 | volume= 19 | issue= 1 | pages= 38-40 | pmid=24604983 | doi=10.4103/0971-9261.125961 | pmc=3935299 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24604983 }} </ref> | |||
:*[[Irritability]] | |||
:* Reluctance to eat | :* Reluctance to eat | ||
:* Fever | :*[[Fever]] | ||
:* Abdominal pain | :*[[Abdominal pain]] | ||
*Common symptoms of malignant rhabdoid tumor of the orbit include: | |||
:* | *Common [[symptoms]] of malignant rhabdoid tumor of the [[Orbit (anatomy)|orbit]] include [[proptosis]].<ref name="GündüzShields1998">{{cite journal|last1=Gündüz|first1=Kaan|last2=Shields|first2=Jerry A.|last3=Eagle|first3=Ralph C.|last4=Shields|first4=Carol L.|last5=De Potter|first5=Patrick|last6=Klombers|first6=Lee|title=Malignant Rhabdoid Tumor of the Orbit|journal=Archives of Ophthalmology|volume=116|issue=2|year=1998|issn=0003-9950|doi=10.1001/archopht.116.2.243}}</ref> | ||
*Common [[symptoms]] of malignant rhabdoid tumor of the [[Urinary bladder|bladder]] include:<ref name="pmid21775180">{{cite journal| author=Savage N, Linn D, McDonough C, Donohoe JM, Franco A, Reuter V et al.| title=Molecularly confirmed primary malignant rhabdoid tumor of the urinary bladder: implications of accurate diagnosis. | journal=Ann Diagn Pathol | year= 2012 | volume= 16 | issue= 6 | pages= 504-7 | pmid=21775180 | doi=10.1016/j.anndiagpath.2011.04.008 | pmc=3448015 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21775180 }} </ref> | |||
:*[[Blood in urine]] | |||
:*[[Weight loss]] | |||
:*[[Decreased appetite]] | |||
*Common [[symptoms]] of malignant rhabdoid tumor of the [[head]] (atypical teratoid/rhabdoid tumor) include:<ref name="pmid27695363">{{cite journal| author=Biswas A, Kashyap L, Kakkar A, Sarkar C, Julka PK| title=Atypical teratoid/rhabdoid tumors: challenges and search for solutions. | journal=Cancer Manag Res | year= 2016 | volume= 8 | issue= | pages= 115-125 | pmid=27695363 | doi=10.2147/CMAR.S83472 | pmc=5033212 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=27695363 }} </ref> | |||
:*[[Headache]] | |||
:*[[Vomiting]] | |||
:*[[Lethargy]] | |||
:*[[Failure to thrive]] | |||
:* Regression of [[developmental milestones]] | |||
:*[[Irritability]] | |||
:*[[Macrocephaly]] | |||
:*[[Ataxia]] | |||
:*[[Nystagmus]] | |||
:*[[Cranial nerve palsies]] | |||
===Physical Examination=== | |||
* The [[physical examination]] findings according to the location of the [[tumor]] include:<ref name="GündüzShields1998">{{cite journal|last1=Gündüz|first1=Kaan|last2=Shields|first2=Jerry A.|last3=Eagle|first3=Ralph C.|last4=Shields|first4=Carol L.|last5=De Potter|first5=Patrick|last6=Klombers|first6=Lee|title=Malignant Rhabdoid Tumor of the Orbit|journal=Archives of Ophthalmology|volume=116|issue=2|year=1998|issn=0003-9950|doi=10.1001/archopht.116.2.243}}</ref><ref name="pmid20299301">{{cite journal| author=Abdullah A, Patel Y, Lewis TJ, Elsamaloty H, Strobel S| title=Extrarenal malignant rhabdoid tumors: radiologic findings with histopathologic correlation. | journal=Cancer Imaging | year= 2010 | volume= 10 | issue= | pages= 97-101 | pmid=20299301 | doi=10.1102/1470-7330.2010.0010 | pmc=2842174 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=20299301 }} </ref><ref name="SislerSiegel1989">{{cite journal|last1=Sisler|first1=C L|last2=Siegel|first2=M J|title=Malignant rhabdoid tumor of the kidney: radiologic features.|journal=Radiology|volume=172|issue=1|year=1989|pages=211–212|issn=0033-8419|doi=10.1148/radiology.172.1.2544921}}</ref><ref name="pmid27695363">{{cite journal| author=Biswas A, Kashyap L, Kakkar A, Sarkar C, Julka PK| title=Atypical teratoid/rhabdoid tumors: challenges and search for solutions. | journal=Cancer Manag Res | year= 2016 | volume= 8 | issue= | pages= 115-125 | pmid=27695363 | doi=10.2147/CMAR.S83472 | pmc=5033212 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=27695363 }} </ref> | |||
:* Malignant rhabdoid tumor of the [[Orbit (anatomy)|orbit]]: [[Dilated pupils]] and [[proptosis]]. | |||
:* Malignant rhabdoid tumor of the [[liver]]: [[Right upper quadrant]] [[tenderness]] and [[hepatomegaly]]. | |||
:* Malignant rhabdoid tumor of the [[kidney]]: Palpable [[abdominal mass]] and [[hypertension]]. | |||
:* Atypical teratoid/rhabdoid tumor: [[Ataxia]], [[nystagmus]], [[cranial nerve palsies]]. | |||
===Laboratory Findings=== | |||
* Depending on the location of the [[tumor]], there may be different lab findings in patients. The lab findings that may be seen according to the location of the [[tumor]] include:<ref name="pmid20299301">{{cite journal| author=Abdullah A, Patel Y, Lewis TJ, Elsamaloty H, Strobel S| title=Extrarenal malignant rhabdoid tumors: radiologic findings with histopathologic correlation. | journal=Cancer Imaging | year= 2010 | volume= 10 | issue= | pages= 97-101 | pmid=20299301 | doi=10.1102/1470-7330.2010.0010 | pmc=2842174 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=20299301 }} </ref><ref name="WingerBuyuk2006">{{cite journal|last1=Winger|first1=David I.|last2=Buyuk|first2=Arzu|last3=Bohrer|first3=Stuart|last4=Turi|first4=George K.|last5=Scimeca|first5=Phillip|last6=Price|first6=Anita P.|last7=Katz|first7=Douglas S.|title=Radiology–Pathology Conference: rhabdoid tumor of the kidney|journal=Clinical Imaging|volume=30|issue=2|year=2006|pages=132–136|issn=08997071|doi=10.1016/j.clinimag.2005.09.027}}</ref><ref name="pmid24982576">{{cite journal| author=Podduturi V, Campa-Thompson MM, Zhou XJ, Guileyardo JM| title=Malignant rhabdoid tumor of the kidney arising in an adult patient. | journal=Proc (Bayl Univ Med Cent) | year= 2014 | volume= 27 | issue= 3 | pages= 239-41 | pmid=24982576 | doi=10.1080/08998280.2014.11929125 | pmc=4059580 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24982576 }} </ref> | |||
:* Malignant rhabdoid tumor of the [[kidney]]: [[Microscopic hematuria]], [[leukocytosis]], decreased [[hemoglobin]] and [[hematocrit]], elevated [[Blood urea nitrogen|BUN]] and [[creatinine]], and [[hypercalcemia]] (due to elevated [[parathormone]] levels). | |||
:* Malignant rhadoid tumor of the [[liver]]: elevated lactose dehydrogenase. | |||
===Electrocardiogram=== | |||
* There are no [[ECG]] findings associated with malignant rhabdoid tumor. | |||
===X-ray=== | |||
There are no [[x-ray]] findings associated with malignant rhabdoid tumor. | |||
===Echocardiography or Ultrasound=== | ===Echocardiography or Ultrasound=== | ||
*Ultrasound may be helpful in the diagnosis of malignant rhabdoid tumor. Findings on an ultrasound suggestive of/diagnostic of malignant rhabdoid tumor include:<ref name=" | *Ultrasound may be helpful in the diagnosis of malignant rhabdoid tumor. Findings on an [[ultrasound]] suggestive of/diagnostic of malignant rhabdoid tumor include:<ref name="WingerBuyuk2006">{{cite journal|last1=Winger|first1=David I.|last2=Buyuk|first2=Arzu|last3=Bohrer|first3=Stuart|last4=Turi|first4=George K.|last5=Scimeca|first5=Phillip|last6=Price|first6=Anita P.|last7=Katz|first7=Douglas S.|title=Radiology–Pathology Conference: rhabdoid tumor of the kidney|journal=Clinical Imaging|volume=30|issue=2|year=2006|pages=132–136|issn=08997071|doi=10.1016/j.clinimag.2005.09.027}}</ref> | ||
:* | |||
:* A lobulated [[mass]] with [[heterogeneous]] [[echogenicity]] that may be due to [[hemorrhage]], [[necrosis]], fat, or [[calcification]]. | |||
===CT Scan=== | ===CT Scan=== | ||
* | *[[Computed tomography|CT scan]] may be helpful in the [[diagnosis]] of malignant rhabdoid tumor. Findings on [[Computed tomography|CT scan]] suggestive of/diagnostic of malignant rhabdoid tumor include:<ref name="pmid24604983">{{cite journal| author=Agarwala S, Jindal B, Jana M, Bhatnagar V, Gupta AK, Iyer VK| title=Malignant rhabdoid tumor of liver. | journal=J Indian Assoc Pediatr Surg | year= 2014 | volume= 19 | issue= 1 | pages= 38-40 | pmid=24604983 | doi=10.4103/0971-9261.125961 | pmc=3935299 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24604983 }} </ref><ref name="GündüzShields1998">{{cite journal|last1=Gündüz|first1=Kaan|last2=Shields|first2=Jerry A.|last3=Eagle|first3=Ralph C.|last4=Shields|first4=Carol L.|last5=De Potter|first5=Patrick|last6=Klombers|first6=Lee|title=Malignant Rhabdoid Tumor of the Orbit|journal=Archives of Ophthalmology|volume=116|issue=2|year=1998|issn=0003-9950|doi=10.1001/archopht.116.2.243}}</ref><ref name="SislerSiegel1989">{{cite journal|last1=Sisler|first1=C L|last2=Siegel|first2=M J|title=Malignant rhabdoid tumor of the kidney: radiologic features.|journal=Radiology|volume=172|issue=1|year=1989|pages=211–212|issn=0033-8419|doi=10.1148/radiology.172.1.2544921}}</ref> | ||
:* Homogenously hypodense lesion/lesions in the liver | |||
:*[[Homogenous|Homogenously]] hypodense lesion/lesions in the [[liver]] | |||
:* Ill-defined [[homogeneous]] [[mass]] filling the intraconal space (MRT of the [[Orbit (anatomy)|orbit]]) | |||
:*[[Soft tissue]] [[mass]] that may compress the underlying normal [[Kidney|renal]] [[parenchyma]] | |||
:* Fluid accumulation and peripheral [[nodules]] in the subcapsular space | |||
* After the [[diagnosis]] of malignant rhabdoid tumor in a patient, further [[imaging]] of other parts of the [[chest]], [[liver]], [[brain]], and other parts of the body is recommended in order to search for distant [[metastasis]].<ref name="pmid20299301">{{cite journal| author=Abdullah A, Patel Y, Lewis TJ, Elsamaloty H, Strobel S| title=Extrarenal malignant rhabdoid tumors: radiologic findings with histopathologic correlation. | journal=Cancer Imaging | year= 2010 | volume= 10 | issue= | pages= 97-101 | pmid=20299301 | doi=10.1102/1470-7330.2010.0010 | pmc=2842174 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=20299301 }} </ref> | |||
===MRI=== | ===MRI=== | ||
*Abdominal MRI may be helpful in the diagnosis of malignant rhabdoid tumor. Findings on MRI suggestive of/diagnostic of malignant rhabdoid tumor include:<ref name="pmid24604983">{{cite journal| author=Agarwala S, Jindal B, Jana M, Bhatnagar V, Gupta AK, Iyer VK| title=Malignant rhabdoid tumor of liver. | journal=J Indian Assoc Pediatr Surg | year= 2014 | volume= 19 | issue= 1 | pages= 38-40 | pmid=24604983 | doi=10.4103/0971-9261.125961 | pmc=3935299 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24604983 }} </ref> | *[[Abdominal]] [[Magnetic resonance imaging|MRI]] may be helpful in the [[diagnosis]] of malignant rhabdoid tumor. Findings on [[Magnetic resonance imaging|MRI]] suggestive of/diagnostic of malignant rhabdoid tumor include:<ref name="pmid24604983">{{cite journal| author=Agarwala S, Jindal B, Jana M, Bhatnagar V, Gupta AK, Iyer VK| title=Malignant rhabdoid tumor of liver. | journal=J Indian Assoc Pediatr Surg | year= 2014 | volume= 19 | issue= 1 | pages= 38-40 | pmid=24604983 | doi=10.4103/0971-9261.125961 | pmc=3935299 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24604983 }} </ref> | ||
:* | |||
:* A lobulated [[mass]] with hypointense [[Lesion|lesions]] on T1-weighted (W) and hyperintense on T2-W images | |||
[[File:ATRT-MRI v2.jpg|400px|thumb|left|MRI showing supratentorial atypical teratoid/rhabdoid tumor (ATRT) in a young child [https://commons.wikimedia.org/wiki/File:ATRT-MRI.jpg source:Marvin 101 ]]] | |||
<br style="clear:left" /> | |||
===Other Imaging Findings=== | |||
There are no other [[imaging]] findings associated with malignant rhabdoid tumor. | |||
===Other Diagnostic Findings=== | |||
There are no other diagnostic studies associated with malignant rhabdoid tumor. | |||
==Treatment== | ==Treatment== | ||
===Medical Therapy=== | ===Medical Therapy=== | ||
* | * There is no precise/exact treatment for malignant rhabdoid tumor.<ref name="WarrenOxley2014">{{cite journal|last1=Warren|first1=Katherine Sarah|last2=Oxley|first2=Jon|last3=Koupparis|first3=Anthony|title=Pure malignant rhabdoid tumour of the bladder|journal=Canadian Urological Association Journal|volume=8|issue=3-4|year=2014|pages=260|issn=1920-1214|doi=10.5489/cuaj.1633}}</ref> | ||
* Malignant rhabdoid tumor of the orbit may be treated with chemotherapeutic agents such as ifosfamide, carboplatin, and etoposide. This may be combined with surgical resection or used to reduce the tumor size before the use of gamma knife radiation. | * The [[chemotherapeutic agents]] used in the treatment of malignant rhabdoid tumor of the [[liver]] could be [[ifosfamide]] alone or in combination with [[carboplatin]] and [[etoposide]] alternating with [[vincristine]], [[adriamycin]], and [[cyclophosphamide]] at three weeks interval. MRT of the [[liver]] is known to be fatal and resistant to multimodal therapy.<ref name="pmid21744471">{{cite journal| author=Trobaugh-Lotrario AD, Finegold MJ, Feusner JH| title=Rhabdoid tumors of the liver: rare, aggressive, and poorly responsive to standard cytotoxic chemotherapy. | journal=Pediatr Blood Cancer | year= 2011 | volume= 57 | issue= 3 | pages= 423-8 | pmid=21744471 | doi=10.1002/pbc.22857 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21744471 }} </ref><ref name="pmid17551403">{{cite journal| author=Jayaram A, Finegold MJ, Parham DM, Jasty R| title=Successful management of rhabdoid tumor of the liver. | journal=J Pediatr Hematol Oncol | year= 2007 | volume= 29 | issue= 6 | pages= 406-8 | pmid=17551403 | doi=10.1097/MPH.0b013e3180601011 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17551403 }} </ref><ref name="pmid12378463">{{cite journal| author=Ravindra KV, Cullinane C, Lewis IJ, Squire BR, Stringer MD| title=Long-term survival after spontaneous rupture of a malignant rhabdoid tumor of the liver. | journal=J Pediatr Surg | year= 2002 | volume= 37 | issue= 10 | pages= 1488-90 | pmid=12378463 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12378463 }} </ref> | ||
* Malignant rhabdoid tumor of the [[Orbit (anatomy)|orbit]] may be treated with [[chemotherapeutic agents]] such as [[ifosfamide]], [[carboplatin]], and [[etoposide]]. This may be combined with [[surgical resection]] or used to reduce the [[tumor]] size before the use of gamma knife radiation.<ref name="BiswasKashyap2016">{{cite journal|last1=Biswas|first1=Ahitagni|last2=Kashyap|first2=Lakhan|last3=Kakkar|first3=Aanchal|last4=Sarkar|first4=Chitra|last5=Julka|first5=Pramod|title=Atypical teratoid/rhabdoid tumors: challenges and search for solutions|journal=Cancer Management and Research|volume=Volume 8|year=2016|pages=115–125|issn=1179-1322|doi=10.2147/CMAR.S83472}}</ref> | |||
* The children's [[oncology]] group developed a protocol for the treatment of malignant rhabdoid [[tumor]] which has also been used to treat [[Tumor|tumors]] in different locations. The [[chemotherapy]] protocol includes the use of [[vincristine]], [[cyclophosphamide]], and [[doxorubicin]] (VDCPM1) at weeks 1, 7, 13, 19, and 25, and [[cyclophosphamide]], [[carboplatin]], and [[etoposide]] (CPM5+CE) at weeks 4, 10, 16, 22, and 28.<ref name="DuanZheng2018">{{cite journal|last1=Duan|first1=Chao|last2=Zheng|first2=Lei|last3=Zhang|first3=Dawei|last4=Jin|first4=Mei|last5=Su|first5=Yan|last6=Zhao|first6=Wen|last7=Wang|first7=Xisi|last8=Zhao|first8=Qian|last9=Huang|first9=Cheng|last10=Zhang|first10=Jie|last11=Zhang|first11=Jianguo|last12=Ni|first12=Xin|last13=Ma|first13=Xiaoli|title=Treatment of malignant rhabdoid tumors of the head and neck with combined chemotherapy and 125 | |||
I particle implantation|journal=Pediatric Investigation|volume=2|issue=1|year=2018|pages=53–55|issn=25742272|doi=10.1002/ped4.12025}}</ref> | |||
* Patients may experience [[side effects]] such as [[anemia]], [[neutropenia]], [[thrombocytopenia]], and [[Infection|infections]].<ref name="DuanZheng2018">{{cite journal|last1=Duan|first1=Chao|last2=Zheng|first2=Lei|last3=Zhang|first3=Dawei|last4=Jin|first4=Mei|last5=Su|first5=Yan|last6=Zhao|first6=Wen|last7=Wang|first7=Xisi|last8=Zhao|first8=Qian|last9=Huang|first9=Cheng|last10=Zhang|first10=Jie|last11=Zhang|first11=Jianguo|last12=Ni|first12=Xin|last13=Ma|first13=Xiaoli|title=Treatment of malignant rhabdoid tumors of the head and neck with combined chemotherapy and 125 | |||
I particle implantation|journal=Pediatric Investigation|volume=2|issue=1|year=2018|pages=53–55|issn=25742272|doi=10.1002/ped4.12025}}</ref> | |||
===Surgery=== | ===Surgery=== | ||
* Malignant rhabdoid tumor can be treated [[Surgery|surgically]].<ref name="SterlingLong2015">{{cite journal|last1=Sterling|first1=Matthew E.|last2=Long|first2=Christopher J.|last3=Bosse|first3=Kristopher R.|last4=Bagatell|first4=Rochelle|last5=Shukla|first5=Aseem R.|title=A Rapid Progression of Disease After Surgical Excision of a Malignant Rhabdoid Tumor of the Bladder|journal=Urology|volume=85|issue=3|year=2015|pages=664–666|issn=00904295|doi=10.1016/j.urology.2014.11.011}}</ref> | |||
* Depending on the location and character of the [[tumor]], complete [[tumor]] [[resection]] can be pursued as in cases of malignant rhabdoid tumor of the [[liver]]. In cases where the [[tumor]] is not resectable, a [[liver transplant]] may be done. When located in the [[kidney]], a [[nephrectomy]] may be done, and may be followed by [[chemotherapy]] and/or [[radiation therapy]].<ref name="WingerBuyuk2006">{{cite journal|last1=Winger|first1=David I.|last2=Buyuk|first2=Arzu|last3=Bohrer|first3=Stuart|last4=Turi|first4=George K.|last5=Scimeca|first5=Phillip|last6=Price|first6=Anita P.|last7=Katz|first7=Douglas S.|title=Radiology–Pathology Conference: rhabdoid tumor of the kidney|journal=Clinical Imaging|volume=30|issue=2|year=2006|pages=132–136|issn=08997071|doi=10.1016/j.clinimag.2005.09.027}}</ref><ref name="pmid21744471">{{cite journal| author=Trobaugh-Lotrario AD, Finegold MJ, Feusner JH| title=Rhabdoid tumors of the liver: rare, aggressive, and poorly responsive to standard cytotoxic chemotherapy. | journal=Pediatr Blood Cancer | year= 2011 | volume= 57 | issue= 3 | pages= 423-8 | pmid=21744471 | doi=10.1002/pbc.22857 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21744471 }} </ref><ref name="pmid17551403">{{cite journal| author=Jayaram A, Finegold MJ, Parham DM, Jasty R| title=Successful management of rhabdoid tumor of the liver. | journal=J Pediatr Hematol Oncol | year= 2007 | volume= 29 | issue= 6 | pages= 406-8 | pmid=17551403 | doi=10.1097/MPH.0b013e3180601011 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17551403 }} </ref><ref name="pmid12378463">{{cite journal| author=Ravindra KV, Cullinane C, Lewis IJ, Squire BR, Stringer MD| title=Long-term survival after spontaneous rupture of a malignant rhabdoid tumor of the liver. | journal=J Pediatr Surg | year= 2002 | volume= 37 | issue= 10 | pages= 1488-90 | pmid=12378463 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12378463 }} </ref> | |||
* Some [[Tumor|tumors]] cannot be operated on due to the location. These [[Tumor|tumors]] may be treated with [[chemotherapy]] and/or [[Radiation therapy|radiotherapy]].<ref name="NgToe2019">{{cite journal|last1=Ng|first1=Wing Ki|last2=Toe|first2=Boon Ping|last3=Lau|first3=Hin Yue|title=Malignant Rhabdoid Tumor of the Mediastinum: A Case Report and Literature Review|journal=Journal of Clinical Imaging Science|volume=9|year=2019|pages=7|issn=2156-7514|doi=10.25259/JCIS-9-7}}</ref> | |||
* Malignant rhabdoid tumor is an aggressive [[tumor]] that can recur even after [[Surgical resection|surgical excision]] and [[chemotherapy]]. Most patients die from [[tumor]] invasion and [[metastasis]].<ref name="GündüzShields1998">{{cite journal|last1=Gündüz|first1=Kaan|last2=Shields|first2=Jerry A.|last3=Eagle|first3=Ralph C.|last4=Shields|first4=Carol L.|last5=De Potter|first5=Patrick|last6=Klombers|first6=Lee|title=Malignant Rhabdoid Tumor of the Orbit|journal=Archives of Ophthalmology|volume=116|issue=2|year=1998|issn=0003-9950|doi=10.1001/archopht.116.2.243}}</ref> | |||
===Primary Prevention=== | |||
There are no established measures for the [[primary prevention]] of malignant rhabdoid tumor. | |||
===Secondary Prevention=== | |||
There are no established measures for the [[secondary prevention]] of malignant rhabdoid tumor. | |||
==References== | ==References== |
Latest revision as of 15:44, 19 November 2019
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Ifeoma Odukwe, M.D. [2], Sujit Routray, M.D. [3]
Synonyms and keywords: Malignant rhabdoid tumour; Malignant rhabdoid neoplasm; Atypical teratoid rhabdoid tumor
Overview
Malignant rhabdoid tumor is an aggressive tumor in the pediatric population. It commonly starts in the kidney (rhabdoid tumor of the kidney) but it can occur in other soft tissues (extrarenal malignant rhabdoid tumor) and the brain (atypical teratoid rhabdoid tumor). It was originally believed to be a rhabdomyosarcomatoid variant of Wilms' tumor because of the cells resemblance to rhabdomyoblasts. It was later determined to be its own distinct clinicopathologic entity because the cells could not demonstrate myogenic differentiation on immunohistochemical studies. Malignant rhabdoid tumor of the kidney accounts for about 2% of all pediatric renal malignancies. The exact cause is unknown but it has been shown to be associated with the mutation of SMARCB1/INI-1 which is a tumor suppressor gene. It may be associated with conditions such as ependymoma and astrocytoma. Some of the histological characteristics of malignant rhabdoid tumor include eosinophilic cytoplasmic inclusions, vesicular nucleus with prominent nucleoli, and moderate to abundant eosinophilic cytoplasm. The incidence of malignant rhabdoid tumor of the kidney is approximately 0.019 per 100,000 individuals per year in the US. Though the tumor is seen mostly in infants, some cases have been reported in adults. The prognosis is poor with the overall survival rate being low. Metastasis is a common cause of death in these patients and most of the tumors metastasize early. Patients experience symptoms based on the location of the tumor. Patients with tumors in the liver may experience abdominal pain, fever, irritability. Those with tumors in the brain present with headache, ataxia, nystagmus. Imaging modalities that may be used in the diagnosis of malignant rhabdoid tumor include CT scan and MRI. They have different findings depending on the tumor location. The treatment depends on the character of the tumor and the circumstances that surround it. Some may be treated with surgical excision and chemotherapy/radiotherapy. Some tumors cannot be treated surgically and may need to rely on chemotherapy. Some common chemotherapeutic agents used include vincristine, cyclophosphamide, doxorubicin, and ifosfamide.
Historical Perspective
- In 1978, Beckwith and Palmar first described malignant rhabdoid tumor of the kidney as a "rhabdomyosarcomatoid variant of wilms tumor" because the cells resembled rhabdomyoblasts. Although with further studies, it was recognized as a distinct clinicopathologic entity because of the inability to demonstrate myogenic differentiation.[1][2]
- In 1982, Gonzalez-Crussi et al first described malignant rhabdoid tumor of the liver.[3][4]
- In 1989, Rootman et al were the first to originally describe primary malignant tumor of the orbit.[5][6]
Classification
There is no established system for the classification of malignant rhabdoid tumor.
Pathophysiology
- Malignant rhabdoid tumor is a rare and aggressive tumor commonly seen in young children. It commonly arises in the kidney but can be seen in various sites including the liver, pelvis, CNS, abdomen, heart and other soft tissues.[3]
- Cytogenetic and molecular analyses have shown that the deletion of chromosome 22q11.2 may be associated with the development of malignant rhabdoid tumor. Through this deletion, which is bi-allelic, the SMARCB1/INI-1 (integrase interactor 1) tumor suppressor gene was discovered and its mutation is believed to contribute to the oncogenesis of renal and extrarenal malignant rhabdoid tumors.[1][7]
- The tumors may emerge in different ways, either through tumor progression from other types of neoplasms or de novo from non-neoplastic cells. When it arises from other neoplasms with other nonrhabdoid tumor components discovered, the tumors are called composite malignant rhabdoid tumors.[8]
- Rhabdoid tumors can arise in parts of the body outside the kidney such as the urinary bladder, gastrointestinal tract, mediastinum, liver, soft tissue, orbit, uterus, and central nervous system. When it arises in the CNS, it is called atypical teratoid rhabdoid tumor.[1]
- Conditions associated with malignant rhabdoid tumor include pancreatic neuroendocrine tumors, ependymoma, and astrocytoma.[9]
- On gross pathology, malignant rhabdoid tumor of the kidney is characterized by poorly circumscribed soft tan lesion with areas of necrosis. There may be numerous tan-gray nodules present within.[1][3]
- On microscopic histopathological analysis, malignant rhabdoid tumor is characterized by:[1][3]
- Round or polygonal cells
- Sheets of anaplastic, noncohesive tumor cells with eccentric nuclei
- Large, vesicular nucleus with prominent nucleoli and moderate to abundant eosinophilic cytoplasm
- Eosinophilic, fibrillar cytoplasmic inclusions
- Intravascular tumor within adjacent soft tissues
- It has a similar superficial histological resemblance with rhabdomyosarcoma with tangles of vimentin filaments in the eosinophilic cytoplasm. The difference is the absence of actin and myosin in the cytoplasm which are present in tumors of myogenic origin.[9]
- On immunohistochemical studies, malignant rhabdoid tumor cells are positive for vimentin and pancytokeratin (AE 1–3), but negative for desmin, myoglobin, and S100.[1]
- According to the Children’s Oncology Group (COG) staging system, there are 5 stages of malignant rhabdoid tumor."Types of Children's Cancer".
Staging | Characteristic findings |
---|---|
Stage I |
|
Stage II |
|
Stage III |
|
Stage IV |
|
Stage V |
|
Causes
There is no clear cause of malignant rhabdoid tumor but it is believed that the loss-of-function mutation of SMARCB1 tumor suppression gene contributes to the oncogenesis.[1][7]
Differentiating Malignant Rhabdoid Tumor from Other Diseases
Malignant rhabdoid tumor of the kidney should be differentiated from other diseases that present with hemeturia, abdominal pain and abdominal mass. The following are the differentials:[10][11][12][13][14][15][16][17][18]
S.No. | Disease | Symptoms | Signs | Diagnosis | Comments | |||||
---|---|---|---|---|---|---|---|---|---|---|
Abdominal Pain | Hematuria | Headache | Abdominal mass | Abdominal tenderness | Ultrasonography | CT scan | Histology | |||
1. | Rhabdoid tumor of the kidney | + | + | - | + | - |
|
|
|
|
2. | Wilms tumor | + | + | - | + | + |
|
|
|
|
3. | Renal cell carcinoma | + | + | +/- | + | - |
|
Both CT and MRI may be used to detect neoplastic masses that may define renal cell carcinoma or metastasis of the primary cancer. CT scan and use of intravenous (IV) contrast is generally used for work-up and follow-up of patients with renal cell carcinoma. | The histological pattern of renal cell carcinoma depends whether it is papillary, chromophobe or collecting duct renal cell carcinoma. | |
4. | Polycystic kidney disease | + | + | + (from hypertension) | + | - |
Ultrasound may be helpful in the diagnosis of polycystic kidney disease. Findings on an ultrasound diagnostic of polycystic kidney disease include:[23][24] |
Renal CT scan may be helpful in the diagnosis of polycystic kidney disease. Findings on CT scan diagnostic of ADPKD include:
|
||
5. | Pheochromocytoma | - | - | + (as a part of the hypertension paroxysm) | - | - |
|
The following findings may be observed on CT scan:[29]
|
|
|
6. | Burkitt lymphoma | +/- (in non-endemic or sporadic form of the disease) | - | - | - | - |
|
|
|
|
7. | Intussusception | + | - | - | +/- | + |
|
|
|
|
8. | Hydronephrosis | + | +/- | - | - | + (CVA tenderness in case of pyelonephritis) |
|
|
|
|
9. | Dysplastic kidney | N/A | N/A | N/A | N/A | N/A |
MCDK is usually diagnosed by ultrasound examination before birth.
|
|
||
10. | Pediatric Neuroblastoma | + | - | - | +/- | +/- |
|
|
|
|
11. | Pediatric Rhabdomyosarcoma | + | +/- | +/- | - | +/- | On CT scan, rhabdomyosarocma is characterized by:
|
|
||
12. | Mesoblastic nephroma | + | + | - | + | - |
|
|
Classic mesoblastic nephroma
Cellular mesoblastic nephroma
Mixed mesoblastic nephroma
|
Most common renal tumor that occurs in 1st month of life |
Epidemiology and Demographics
- The incidence of malignant rhabdoid tumor of the kidney is approximately 0.019 per 100,000 individuals per year in the US. That of atypical teratoid/rhabdoid tumor is 0.089 per 100,000 per year, and 0.032 per 1000,000 yearly for the tumors found in other sites.[42]
- Malignant rhabdoid tumor of the kidney accounts for about 2% of all pediatric renal malignancies.[9]
- The mortality rate of malignant rhabdoid tumor is approximately 80%.[43]
- It mostly occur in infants. The median reported age is about 22.5 months.[44]
- Although malignant rhabdoid tumors usually affect children, some cases in adults have been reported with the age at diagnosis ranging from 32 to 60 years.[1]
- It affects females and males equally.[42]
Risk Factors
There are no established risk factors for malignant rhabdoid tumor.[45]
Screening
There is insufficient evidence to recommend routine screening for malignant rhabdoid tumor.
Natural History, Complications, and Prognosis
- Malignant rhabdoid tumors are prone to metastasize early with metastasis being the most common cause of death among patients. Most cases may have already metastasized before the diagnosis is made.[44][43]
- In most cases, patients die at an average of 6 months after diagnosis.[46]
- Common complications of malignant rhabdoid tumor include spontaneous tumor rupture and thrombotic pulmonary microangiopathy (pulmonary tumor embolism syndrome) which may be seen in adult patients with metastasis to the lungs.[3][1]
- The 5-year survival rate of malignant rhabdoid tumor is 33%.[42]
- The overall survival rate ranges from between 22% to 42%.[47]
- In adults, the prognosis is poor with the survival time after diagnosis being only a few months.[1]
- Factors associated with significantly reduced survival include metastases/multifocal disease, younger age, infratentorial location, and less than complete remission at the end of chemotherapy.[47][48]
- Neither tumor volume at diagnosis nor pre-operative chemosensitivity affects the outcome.[49]
Diagnosis
Diagnostic Study of Choice
- The diagnosis of malignant rhabdoid tumor is based on characteristic histopathological features, which include large oval to polygonal cells with abundant eosinophilic cytoplasm, large vesicular nuclei with prominent nucleoli, and conspicuous filamentous cytoplasmic inclusions.[43]
- Immunohistochemistry is important in the diagnosis of malignant rhabdoid tumor. The tumor has a positive immunoreactivity for vimentin, cytokeratin and epithelial membrane antigen. The tumor is usually positive for vimentin with that of cytokeratin and epithelial membrane antigen being variable. it's negative immunoreactivity for muscle markers, histiocytic markers, HMB-45, and S100 protein helps to exclude myogenic and histiocytic neoplasms and malignant melanoma.[43]
History and Symptoms
- Patients with malignant rhabdoid tumor of the kidney may have a positive history of fatigue and abdominal distension.[1]
- A positive history of fever and abdominal distension is suggestive of malignant rhabdoid tumor of the liver.[3]
- Common symptoms of malignant rhabdoid tumor of the kidney include:[50]
- Irritability
- Reluctance to eat
- Fever
- Abdominal pain
- Common symptoms of malignant rhabdoid tumor of the orbit include proptosis.[43]
- Common symptoms of malignant rhabdoid tumor of the bladder include:[44]
- Common symptoms of malignant rhabdoid tumor of the head (atypical teratoid/rhabdoid tumor) include:[51]
Physical Examination
- Malignant rhabdoid tumor of the orbit: Dilated pupils and proptosis.
- Malignant rhabdoid tumor of the liver: Right upper quadrant tenderness and hepatomegaly.
- Malignant rhabdoid tumor of the kidney: Palpable abdominal mass and hypertension.
- Atypical teratoid/rhabdoid tumor: Ataxia, nystagmus, cranial nerve palsies.
Laboratory Findings
- Depending on the location of the tumor, there may be different lab findings in patients. The lab findings that may be seen according to the location of the tumor include:[46][9][1]
- Malignant rhabdoid tumor of the kidney: Microscopic hematuria, leukocytosis, decreased hemoglobin and hematocrit, elevated BUN and creatinine, and hypercalcemia (due to elevated parathormone levels).
- Malignant rhadoid tumor of the liver: elevated lactose dehydrogenase.
Electrocardiogram
- There are no ECG findings associated with malignant rhabdoid tumor.
X-ray
There are no x-ray findings associated with malignant rhabdoid tumor.
Echocardiography or Ultrasound
- Ultrasound may be helpful in the diagnosis of malignant rhabdoid tumor. Findings on an ultrasound suggestive of/diagnostic of malignant rhabdoid tumor include:[9]
- A lobulated mass with heterogeneous echogenicity that may be due to hemorrhage, necrosis, fat, or calcification.
CT Scan
- CT scan may be helpful in the diagnosis of malignant rhabdoid tumor. Findings on CT scan suggestive of/diagnostic of malignant rhabdoid tumor include:[3][43][50]
- Homogenously hypodense lesion/lesions in the liver
- Ill-defined homogeneous mass filling the intraconal space (MRT of the orbit)
- Soft tissue mass that may compress the underlying normal renal parenchyma
- Fluid accumulation and peripheral nodules in the subcapsular space
- After the diagnosis of malignant rhabdoid tumor in a patient, further imaging of other parts of the chest, liver, brain, and other parts of the body is recommended in order to search for distant metastasis.[46]
MRI
- Abdominal MRI may be helpful in the diagnosis of malignant rhabdoid tumor. Findings on MRI suggestive of/diagnostic of malignant rhabdoid tumor include:[3]
Other Imaging Findings
There are no other imaging findings associated with malignant rhabdoid tumor.
Other Diagnostic Findings
There are no other diagnostic studies associated with malignant rhabdoid tumor.
Treatment
Medical Therapy
- There is no precise/exact treatment for malignant rhabdoid tumor.[52]
- The chemotherapeutic agents used in the treatment of malignant rhabdoid tumor of the liver could be ifosfamide alone or in combination with carboplatin and etoposide alternating with vincristine, adriamycin, and cyclophosphamide at three weeks interval. MRT of the liver is known to be fatal and resistant to multimodal therapy.[53][54][55]
- Malignant rhabdoid tumor of the orbit may be treated with chemotherapeutic agents such as ifosfamide, carboplatin, and etoposide. This may be combined with surgical resection or used to reduce the tumor size before the use of gamma knife radiation.[56]
- The children's oncology group developed a protocol for the treatment of malignant rhabdoid tumor which has also been used to treat tumors in different locations. The chemotherapy protocol includes the use of vincristine, cyclophosphamide, and doxorubicin (VDCPM1) at weeks 1, 7, 13, 19, and 25, and cyclophosphamide, carboplatin, and etoposide (CPM5+CE) at weeks 4, 10, 16, 22, and 28.[57]
- Patients may experience side effects such as anemia, neutropenia, thrombocytopenia, and infections.[57]
Surgery
- Malignant rhabdoid tumor can be treated surgically.[58]
- Depending on the location and character of the tumor, complete tumor resection can be pursued as in cases of malignant rhabdoid tumor of the liver. In cases where the tumor is not resectable, a liver transplant may be done. When located in the kidney, a nephrectomy may be done, and may be followed by chemotherapy and/or radiation therapy.[9][53][54][55]
- Some tumors cannot be operated on due to the location. These tumors may be treated with chemotherapy and/or radiotherapy.[59]
- Malignant rhabdoid tumor is an aggressive tumor that can recur even after surgical excision and chemotherapy. Most patients die from tumor invasion and metastasis.[43]
Primary Prevention
There are no established measures for the primary prevention of malignant rhabdoid tumor.
Secondary Prevention
There are no established measures for the secondary prevention of malignant rhabdoid tumor.
References
- ↑ 1.00 1.01 1.02 1.03 1.04 1.05 1.06 1.07 1.08 1.09 1.10 1.11 Podduturi V, Campa-Thompson MM, Zhou XJ, Guileyardo JM (2014). "Malignant rhabdoid tumor of the kidney arising in an adult patient". Proc (Bayl Univ Med Cent). 27 (3): 239–41. doi:10.1080/08998280.2014.11929125. PMC 4059580. PMID 24982576.
- ↑ Sijmons, Rolf H (2008). "Encyclopaedia of tumour-associated familial disorders. Part I: from AIMAH to CHIME syndrome". Hereditary Cancer in Clinical Practice. 6 (1): 22. doi:10.1186/1897-4287-6-1-22. ISSN 1897-4287.
- ↑ 3.0 3.1 3.2 3.3 3.4 3.5 3.6 3.7 3.8 Agarwala S, Jindal B, Jana M, Bhatnagar V, Gupta AK, Iyer VK (2014). "Malignant rhabdoid tumor of liver". J Indian Assoc Pediatr Surg. 19 (1): 38–40. doi:10.4103/0971-9261.125961. PMC 3935299. PMID 24604983.
- ↑ Gonzalez-Crussi F, Goldschmidt RA, Hsueh W, Trujillo YP (1982). "Infantile sarcoma with intracytoplasmic filamentous inclusions: distinctive tumor of possible histiocytic origin". Cancer. 49 (11): 2365–75. doi:10.1002/1097-0142(19820601)49:11<2365::aid-cncr2820491125>3.0.co;2-i. PMID 7200394.
- ↑ Kook KH, Park MS, Yim H, Lee SY, Jang JW, Grossniklaus HE (2009). "A case of congenital orbital malignant rhabdoid tumor: systemic metastasis following exenteration". Ophthalmologica. 223 (4): 274–8. doi:10.1159/000213643. PMC 2988226. PMID 19390226.
- ↑ Rootman J, Damji KF, Dimmick JE (1989). "Malignant rhabdoid tumor of the orbit". Ophthalmology. 96 (11): 1650–4. PMID 2694050.
- ↑ 7.0 7.1 Versteege I, Sévenet N, Lange J, Rousseau-Merck MF, Ambros P, Handgretinger R; et al. (1998). "Truncating mutations of hSNF5/INI1 in aggressive paediatric cancer". Nature. 394 (6689): 203–6. doi:10.1038/28212. PMID 9671307.
- ↑ Ogino S, Ro TY, Redline RW (2000). "Malignant rhabdoid tumor: A phenotype? An entity?--A controversy revisited". Adv Anat Pathol. 7 (3): 181–90. PMID 10809224.
- ↑ 9.0 9.1 9.2 9.3 9.4 9.5 Winger, David I.; Buyuk, Arzu; Bohrer, Stuart; Turi, George K.; Scimeca, Phillip; Price, Anita P.; Katz, Douglas S. (2006). "Radiology–Pathology Conference: rhabdoid tumor of the kidney". Clinical Imaging. 30 (2): 132–136. doi:10.1016/j.clinimag.2005.09.027. ISSN 0899-7071.
- ↑ D. S. Hartman & R. C. Sanders (1982). "Wilms' tumor versus neuroblastoma: usefulness of ultrasound in differentiation". Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine. 1 (3): 117–122. PMID 6152936. Unknown parameter
|month=
ignored (help) - ↑ J. F. De Campo (1986). "Ultrasound of Wilms' tumor". Pediatric radiology. 16 (1): 21–24. PMID 3003660.
- ↑ Sara E. Wobker & Sean R. Williamson (2017). "Modern Pathologic Diagnosis of Renal Oncocytoma". Journal of kidney cancer and VHL. 4 (4): 1–12. doi:10.15586/jkcvhl.2017.96. PMID 29090117.
- ↑ Bita Geramizadeh, Mahmoud Ravanshad & Marjan Rahsaz (2008). "Useful markers for differential diagnosis of oncocytoma, chromophobe renal cell carcinoma and conventional renal cell carcinoma". Indian journal of pathology & microbiology. 51 (2): 167–171. PMID 18603673. Unknown parameter
|month=
ignored (help) - ↑ Oleksandr N. Kryvenko, Merce Jorda, Pedram Argani & Jonathan I. Epstein (2014). "Diagnostic approach to eosinophilic renal neoplasms". Archives of pathology & laboratory medicine. 138 (11): 1531–1541. doi:10.5858/arpa.2013-0653-RA. PMID 25357116. Unknown parameter
|month=
ignored (help) - ↑ A. M. Amar, G. Tomlinson, D. M. Green, N. E. Breslow & P. A. de Alarcon (2001). "Clinical presentation of rhabdoid tumors of the kidney". Journal of pediatric hematology/oncology. 23 (2): 105–108. PMID 11216700. Unknown parameter
|month=
ignored (help) - ↑ T. I. Han, M. J. Kim, H. K. Yoon, J. Y. Chung & K. Choeh (2001). "Rhabdoid tumour of the kidney: imaging findings". Pediatric radiology. 31 (4): 233–237. doi:10.1007/s002470000417. PMID 11321739. Unknown parameter
|month=
ignored (help) - ↑ S. L. Gooskens, M. E. Houwing, G. M. Vujanic, J. S. Dome, T. Diertens, A. Coulomb-l'Hermine, J. Godzinski, K. Pritchard-Jones, N. Graf & M. M. van den Heuvel-Eibrink (2017). "Congenital mesoblastic nephroma 50 years after its recognition: A narrative review". Pediatric blood & cancer. 64 (7). doi:10.1002/pbc.26437. PMID 28124468. Unknown parameter
|month=
ignored (help) - ↑ Zuo-Peng Wang, Kai Li, Kui-Ran Dong, Xian-Min Xiao & Shan Zheng (2014). "Congenital mesoblastic nephroma: Clinical analysis of eight cases and a review of the literature". Oncology letters. 8 (5): 2007–2011. doi:10.3892/ol.2014.2489. PMID 25295083. Unknown parameter
|month=
ignored (help) - ↑ Hartman DS, Sanders RC (April 1982). "Wilms' tumor versus neuroblastoma: usefulness of ultrasound in differentiation". J Ultrasound Med. 1 (3): 117–22. PMID 6152936.
- ↑ De Campo JF (1986). "Ultrasound of Wilms' tumor". Pediatr Radiol. 16 (1): 21–4. PMID 3003660.
- ↑ Cahan LD (1985). "Failure of encephalo-duro-arterio-synangiosis procedure in moyamoya disease". Pediatr Neurosci. 12 (1): 58–62. PMID 4080660.
- ↑ Jolly RD, Stellwagen E, Babul J, Vodkaĭlo LV, Titov VL, Moldomusaev DM, Maianskiĭ AN (November 1975). "Mannosidosis of Angus Cattle: a prototype control program for some genetic diseases". Adv Vet Sci Comp Med. 19 (23): 1–21. PMID 1978.
- ↑ Chapman AB, Devuyst O, Eckardt KU, Gansevoort RT, Harris T, Horie S, Kasiske BL, Odland D, Pei Y, Perrone RD, Pirson Y, Schrier RW, Torra R, Torres VE, Watnick T, Wheeler DC (July 2015). "Autosomal-dominant polycystic kidney disease (ADPKD): executive summary from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference". Kidney Int. 88 (1): 17–27. doi:10.1038/ki.2015.59. PMC 4913350. PMID 25786098.
- ↑ Pei Y, Obaji J, Dupuis A, Paterson AD, Magistroni R, Dicks E, Parfrey P, Cramer B, Coto E, Torra R, San Millan JL, Gibson R, Breuning M, Peters D, Ravine D (January 2009). "Unified criteria for ultrasonographic diagnosis of ADPKD". J. Am. Soc. Nephrol. 20 (1): 205–12. doi:10.1681/ASN.2008050507. PMC 2615723. PMID 18945943.
- ↑ Stavrou C, Koptides M, Tombazos C, Psara E, Patsias C, Zouvani I, Kyriacou K, Hildebrandt F, Christofides T, Pierides A, Deltas CC (October 2002). "Autosomal-dominant medullary cystic kidney disease type 1: clinical and molecular findings in six large Cypriot families". Kidney Int. 62 (4): 1385–94. doi:10.1111/j.1523-1755.2002.kid581.x. PMID 12234310.
- ↑ Bleyer AJ, Kmoch S, Antignac C, Robins V, Kidd K, Kelsoe JR, Hladik G, Klemmer P, Knohl SJ, Scheinman SJ, Vo N, Santi A, Harris A, Canaday O, Weller N, Hulick PJ, Vogel K, Rahbari-Oskoui FF, Tuazon J, Deltas C, Somers D, Megarbane A, Kimmel PL, Sperati CJ, Orr-Urtreger A, Ben-Shachar S, Waugh DA, McGinn S, Bleyer AJ, Hodanová K, Vylet'al P, Živná M, Hart TC, Hart PS (March 2014). "Variable clinical presentation of an MUC1 mutation causing medullary cystic kidney disease type 1". Clin J Am Soc Nephrol. 9 (3): 527–35. doi:10.2215/CJN.06380613. PMC 3944763. PMID 24509297.
- ↑ Faguer S, Decramer S, Chassaing N, Bellanné-Chantelot C, Calvas P, Beaufils S, Bessenay L, Lengelé JP, Dahan K, Ronco P, Devuyst O, Chauveau D (October 2011). "Diagnosis, management, and prognosis of HNF1B nephropathy in adulthood". Kidney Int. 80 (7): 768–76. doi:10.1038/ki.2011.225. PMID 21775974.
- ↑ Heidet L, Decramer S, Pawtowski A, Morinière V, Bandin F, Knebelmann B, Lebre AS, Faguer S, Guigonis V, Antignac C, Salomon R (June 2010). "Spectrum of HNF1B mutations in a large cohort of patients who harbor renal diseases". Clin J Am Soc Nephrol. 5 (6): 1079–90. doi:10.2215/CJN.06810909. PMC 2879303. PMID 20378641.
- ↑ Bravo EL (1991). "Pheochromocytoma: new concepts and future trends". Kidney Int. 40 (3): 544–56. PMID 1787652.
- ↑ Whalen RK, Althausen AF, Daniels GH (1992). "Extra-adrenal pheochromocytoma". J Urol. 147 (1): 1–10. PMID 1729490.
- ↑ Baid SK, Lai EW, Wesley RA, Ling A, Timmers HJ, Adams KT; et al. (2009). "Brief communication: radiographic contrast infusion and catecholamine release in patients with pheochromocytoma". Ann Intern Med. 150 (1): 27–32. PMC 3490128. PMID 19124817.
- ↑ Bravo EL (1991). "Pheochromocytoma: new concepts and future trends". Kidney Int. 40 (3): 544–56. PMID 1787652.
- ↑ Burkitt lymphoma. MedlinePlus. https://www.nlm.nih.gov/medlineplus/ency/article/001308.htm Accessed on September 30, 2015
- ↑ Bellan C, Lazzi S, De Falco G, Nyongo A, Giordano A, Leoncini L (2003). "Burkitt's lymphoma: new insights into molecular pathogenesis". J. Clin. Pathol. 56 (3): 188–92. PMC 1769902. PMID 12610094. Unknown parameter
|month=
ignored (help) - ↑ Ko HS, Schenk JP, Tröger J, Rohrschneider WK (2007). "Current radiological management of intussusception in children". Eur Radiol. 17 (9): 2411–21. doi:10.1007/s00330-007-0589-y. PMID 17308922.
- ↑ Boyle MJ, Arkell LJ, Williams JT (1993). "Ultrasonic diagnosis of adult intussusception". Am. J. Gastroenterol. 88 (4): 617–8. PMID 8470658.
- ↑ Neuroblastoma. Radiopaedia (2015) http://radiopaedia.org/articles/neuroblastoma Accessed on October, 8 2015
- ↑ Colon NC, Chung DH (2011). "Neuroblastoma". Adv Pediatr. 58 (1): 297–311. doi:10.1016/j.yapd.2011.03.011. PMC 3668791. PMID 21736987.
- ↑ Neuroblastoma. Radiopaedia (2015) http://radiopaedia.org/articles/neuroblastoma Accessed on October, 8 2015
- ↑ Neuroblastoma. Libre Pathology(2015) http://librepathology.org/wiki/index.php/Adrenal_gland#Neuroblastoma Accessed on October, 5 2015
- ↑ Mesoblastic nephroma.Dr Ayush Goel and Dr Yuranga Weerakkody et al. Radiopaedia.org 2015. http://radiopaedia.org/articles/mesoblastic-nephroma
- ↑ 42.0 42.1 42.2 Heck JE, Lombardi CA, Cockburn M, Meyers TJ, Wilhelm M, Ritz B (2013). "Epidemiology of rhabdoid tumors of early childhood". Pediatr Blood Cancer. 60 (1): 77–81. doi:10.1002/pbc.24141. PMC 3399923. PMID 22434719.
- ↑ 43.0 43.1 43.2 43.3 43.4 43.5 43.6 43.7 Gündüz, Kaan; Shields, Jerry A.; Eagle, Ralph C.; Shields, Carol L.; De Potter, Patrick; Klombers, Lee (1998). "Malignant Rhabdoid Tumor of the Orbit". Archives of Ophthalmology. 116 (2). doi:10.1001/archopht.116.2.243. ISSN 0003-9950.
- ↑ 44.0 44.1 44.2 Savage N, Linn D, McDonough C, Donohoe JM, Franco A, Reuter V; et al. (2012). "Molecularly confirmed primary malignant rhabdoid tumor of the urinary bladder: implications of accurate diagnosis". Ann Diagn Pathol. 16 (6): 504–7. doi:10.1016/j.anndiagpath.2011.04.008. PMC 3448015. PMID 21775180.
- ↑ Horazdovsky, Ryan; Manivel, J. Carlos; Cheng, Edward Y. (2013). "Surgery and Actinomycin Improve Survival in Malignant Rhabdoid Tumor". Sarcoma. 2013: 1–8. doi:10.1155/2013/315170. ISSN 1357-714X.
- ↑ 46.0 46.1 46.2 46.3 Abdullah A, Patel Y, Lewis TJ, Elsamaloty H, Strobel S (2010). "Extrarenal malignant rhabdoid tumors: radiologic findings with histopathologic correlation". Cancer Imaging. 10: 97–101. doi:10.1102/1470-7330.2010.0010. PMC 2842174. PMID 20299301.
- ↑ 47.0 47.1 Furtwängler R, Kager L, Melchior P, Rübe C, Ebinger M, Nourkami-Tutdibi N; et al. (2018). "High-dose treatment for malignant rhabdoid tumor of the kidney: No evidence for improved survival-The Gesellschaft für Pädiatrische Onkologie und Hämatologie (GPOH) experience". Pediatr Blood Cancer. 65 (1). doi:10.1002/pbc.26746. PMID 28843054.
- ↑ von Hoff K, Hinkes B, Dannenmann-Stern E, von Bueren AO, Warmuth-Metz M, Soerensen N; et al. (2011). "Frequency, risk-factors and survival of children with atypical teratoid rhabdoid tumors (AT/RT) of the CNS diagnosed between 1988 and 2004, and registered to the German HIT database". Pediatr Blood Cancer. 57 (6): 978–85. doi:10.1002/pbc.23236. PMID 21796761.
- ↑ van den Heuvel-Eibrink MM, van Tinteren H, Rehorst H, Coulombe A, Patte C, de Camargo B; et al. (2011). "Malignant rhabdoid tumours of the kidney (MRTKs), registered on recent SIOP protocols from 1993 to 2005: a report of the SIOP renal tumour study group". Pediatr Blood Cancer. 56 (5): 733–7. doi:10.1002/pbc.22922. PMID 21370404.
- ↑ 50.0 50.1 50.2 Sisler, C L; Siegel, M J (1989). "Malignant rhabdoid tumor of the kidney: radiologic features". Radiology. 172 (1): 211–212. doi:10.1148/radiology.172.1.2544921. ISSN 0033-8419.
- ↑ 51.0 51.1 Biswas A, Kashyap L, Kakkar A, Sarkar C, Julka PK (2016). "Atypical teratoid/rhabdoid tumors: challenges and search for solutions". Cancer Manag Res. 8: 115–125. doi:10.2147/CMAR.S83472. PMC 5033212. PMID 27695363.
- ↑ Warren, Katherine Sarah; Oxley, Jon; Koupparis, Anthony (2014). "Pure malignant rhabdoid tumour of the bladder". Canadian Urological Association Journal. 8 (3–4): 260. doi:10.5489/cuaj.1633. ISSN 1920-1214.
- ↑ 53.0 53.1 Trobaugh-Lotrario AD, Finegold MJ, Feusner JH (2011). "Rhabdoid tumors of the liver: rare, aggressive, and poorly responsive to standard cytotoxic chemotherapy". Pediatr Blood Cancer. 57 (3): 423–8. doi:10.1002/pbc.22857. PMID 21744471.
- ↑ 54.0 54.1 Jayaram A, Finegold MJ, Parham DM, Jasty R (2007). "Successful management of rhabdoid tumor of the liver". J Pediatr Hematol Oncol. 29 (6): 406–8. doi:10.1097/MPH.0b013e3180601011. PMID 17551403.
- ↑ 55.0 55.1 Ravindra KV, Cullinane C, Lewis IJ, Squire BR, Stringer MD (2002). "Long-term survival after spontaneous rupture of a malignant rhabdoid tumor of the liver". J Pediatr Surg. 37 (10): 1488–90. PMID 12378463.
- ↑ Biswas, Ahitagni; Kashyap, Lakhan; Kakkar, Aanchal; Sarkar, Chitra; Julka, Pramod (2016). "Atypical teratoid/rhabdoid tumors: challenges and search for solutions". Cancer Management and Research. Volume 8: 115–125. doi:10.2147/CMAR.S83472. ISSN 1179-1322.
- ↑ 57.0 57.1 Duan, Chao; Zheng, Lei; Zhang, Dawei; Jin, Mei; Su, Yan; Zhao, Wen; Wang, Xisi; Zhao, Qian; Huang, Cheng; Zhang, Jie; Zhang, Jianguo; Ni, Xin; Ma, Xiaoli (2018). "Treatment of malignant rhabdoid tumors of the head and neck with combined chemotherapy and 125
I particle implantation". Pediatric Investigation. 2 (1): 53–55. doi:10.1002/ped4.12025. ISSN 2574-2272. line feed character in
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at position 95 (help) - ↑ Sterling, Matthew E.; Long, Christopher J.; Bosse, Kristopher R.; Bagatell, Rochelle; Shukla, Aseem R. (2015). "A Rapid Progression of Disease After Surgical Excision of a Malignant Rhabdoid Tumor of the Bladder". Urology. 85 (3): 664–666. doi:10.1016/j.urology.2014.11.011. ISSN 0090-4295.
- ↑ Ng, Wing Ki; Toe, Boon Ping; Lau, Hin Yue (2019). "Malignant Rhabdoid Tumor of the Mediastinum: A Case Report and Literature Review". Journal of Clinical Imaging Science. 9: 7. doi:10.25259/JCIS-9-7. ISSN 2156-7514.