Malignant rhabdoid tumor: Difference between revisions
Line 12: | Line 12: | ||
*Some of the histological characteristics of malignant rhabdoid tumor include eosinophilic cytoplasmic inclusions, vesicular nucleus with prominent nucleoli, and moderate to abundant eosinophilic cytoplasm. | *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. | *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 | *Though the tumor is seen mostly in infants, some cases have been reported in adults. | ||
==Historical Perspective== | ==Historical Perspective== |
Revision as of 14:59, 25 July 2019
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Sujit Routray, M.D. [2]
Synonyms and keywords: Malignant rhabdoid tumour; Malignant rhabdoid neoplasm; Atypical teratoid rhabdoid tumor
Overview
- Malignant rhabdoid tumor is one of the aggressive tumors in young children. 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 mutation 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.
Historical Perspective
- In 1978, Beckwith and Palmar 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]
- In 1982, Gonzalez-Crussi et al first described malignant rhabdoid tumor of the liver.[2][3]
- In 1989, Rootman et al were the first to originally describe primary malignant tumor of the orbit.[4][5]
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 from the kidney but can be seen in various sites including the liver, pelvis, CNS, abdomen, heart and other soft-tissues.[2]
- 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][6]
- The tumors may emerge in different ways, either through tumor progression from other types of neoplasms or de novo from nonneoplastic cells. When it arises from other neoplasms with other nonrhabdoid tumor components discovered, the tumors are called composite malignant rhabdoid tumors.[7]
- 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.[8]
- 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][2]
- On microscopic histopathological analysis, malignant rhabdoid tumor is characterized by:[1][2]
- 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.[8]
- 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.
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][6]
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:[9][10][11][12][13][14][15][16][17]
S.No. | Disease | Symptoms | Signs | Diagnosis | Comments | |||||
---|---|---|---|---|---|---|---|---|---|---|
Abdominal Pain | Hematuria | Headache | Abdominal mass | Abdominal tenderness | Ultrasonography | CT scan | Histology | |||
1. | Wilms tumor | + | + | - | + | + |
|
|
|
|
2. | 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. | |
3. | Rhabdoid kidney disease | + | + | - | + | - |
|
|
|
|
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:[22][23] |
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:[28]
|
|
|
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.[41]
- Malignant rhabdoid tumor of the kidney accounts for about 2% of all pediatric renal malignancies.[8]
- The mortality rate of malignant rhabdoid tumor is approximately 80%.[42]
- Malignant rhabdoid tumor mostly occur in infants. The median reported age is about 22.5 months.[43]
- 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]
- Malignant rhabdoid tumor affects females and males equally.[41]
Risk Factors
There are no established risk factors for malignant rhabdoid tumor.
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.[43][42]
- In most cases, patients die at an average of 6 months after diagnosis.[44]
- Common complications of malignant rhabdoid tumor include spontaneous tumor rupture.[2]
- Thrombotic pulmonary microangiopathy (pulmonary tumor embolism syndrome) may be seen in adults patients with metastasis to the lungs.[1]
- The 5-year survival rate of malignant rhabdoid tumor is 33%.[41]
- The overall survival rate ranges from between 22% to 42%.[45]
- 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.[45][46]
- Neither tumor volume at diagnosis nor pre-operative chemosensitivity affects the outcome.[47]
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.[42]
- 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.[42]
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, abdominal distension is suggestive of malignant rhabdoid tumor of the liver.[2]
- Common symptoms of malignant rhabdoid tumor of the kidney include:[48]
- Vomiting
- Common symptoms of malignant rhabdoid tumor of the liver include:[2]
- Irritability
- Reluctance to eat
- Fever
- Abdominal pain
- Common symptoms of malignant rhabdoid tumor of the orbit include proptosis.[42]
- Common symptoms of malignant rhabdoid tumor of the bladder include:[43]
- Blood in urine
- Weight loss
- Decreased appetite
- Common symptoms of malignant rhabdoid tumor of the head (atypical teratoid/rhabdoid tumor) include:[49]
- Headahce
- Vomiting
- Lethargy
- Failure to thrive
- Regression of developmental milestones
- Irritability
- Macrocephaly
- Ataxia
- Nystagmus
- Cranial nerve palsies
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 kindey: 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:[44][8][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:[8]
- 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:[2][42][48]
- 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.[44]
MRI
- Abdominal MRI may be helpful in the diagnosis of malignant rhabdoid tumor. Findings on MRI suggestive of/diagnostic of malignant rhabdoid tumor include:[2]
- A lobulated mass with hypointense lesions on T1-weighted (W) and hyperintense on T2-W images
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.
- 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.[50][51][52]
- 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 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.[53]
- Patients may experience side effects such as anemia, neutropenia, thrombocytopenis, and infections.[53]
Surgery
- Malignant rhabdoid tumor can be treated surgically.
- 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 unresectable, 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.[8][50][51][52]
- Some tumors cannot be operated on due to the location. These tumors may be treated with chemotherapy and/or radiotherapy.
- Malignant rhabdoid tumor is an aggressive tumor that can recur even after surgical excision and chemotherapy. Most patients die from tumor invasion and metastasis.[42]
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.
- ↑ 2.0 2.1 2.2 2.3 2.4 2.5 2.6 2.7 2.8 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.
- ↑ 6.0 6.1 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.
- ↑ 8.0 8.1 8.2 8.3 8.4 8.5 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
- ↑ 41.0 41.1 41.2 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.
- ↑ 42.0 42.1 42.2 42.3 42.4 42.5 42.6 42.7 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.
- ↑ 43.0 43.1 43.2 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.
- ↑ 44.0 44.1 44.2 44.3 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.
- ↑ 45.0 45.1 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.
- ↑ 48.0 48.1 48.2 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.
- ↑ 49.0 49.1 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.
- ↑ 50.0 50.1 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.
- ↑ 51.0 51.1 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.
- ↑ 52.0 52.1 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.
- ↑ 53.0 53.1 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
|title=
at position 95 (help)