Malignant rhabdoid tumor: Difference between revisions

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==Epidemiology and Demographics==
==Epidemiology and Demographics==
*Malignant rhabdoid tumor mostly arises 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>
*Malignant rhabdoid tumor 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>
*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>


Revision as of 16:29, 3 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 the pediatric population. It was originally described as a rhabdomyosarcomatoid variant of Wilms' tumor, which is primarily a renal tumor.[1]
  • It comprises of 1.8% of all pediatric renal tumors in the National Wilms' Tumor Study.[2]
  • Malignant rhabdoid tumor was first described as a variant of Wilms' tumor of the kidney, in 1978.
  • Malignant rhabdoid tumor is classified into two groups: renal and extrarenal.[3]
  • Malignant rhabdoid tumor is comprised of rhabdoid tumor cells and varying amounts of small undifferentiated primitive neuroectodermal tumor (PNET)-like, mesenchymally, and/or epithelially differentiated tumor cells.
  • Gene involved in the pathogenesis of malignant rhabdoid tumor include SMARCB1 (hSNF5/INI-1), a tumor suppressor gene.
  • Malignant rhabdoid tumor is characterized by loss of the long arm of chromosome 22, which results in loss of the hSNF5/INI-1 gene.
  • INI1, a member of the SWI/SNF chromatin remodeling complex, is important in maintenance of the mitotic spindle and cell cycle control.
  • Malignant rhabdoid tumor may be associated with rhabdoid predisposition syndrome.[4]
  • Common locations associated with malignant rhabdoid tumor include:[5]

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.[6]
  • 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 (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.[2][7]
  • 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.[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.[2]
  • Genes involved in the pathogenesis of malignant rhabdoid tumor include SMARCB1 and INI1.[6]
  • 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.[2][6]
  • On microscopic histopathological analysis, malignant rhabdoid tumor is characterized by:[2][6]
  • 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
  • On immunohistochemical studies, malignant rhabdoid tumor cells are positive for vimentin and pancytokeratin (AE 1–3), but negative for desmin, myoglobin, and S100.[2]
  • Renal malignant rhabdoid tumor must be differentiated from renal cell carcinoma, Wilms' tumor, mesonephric nephroma, and primitive neuroectodermal tumor of the kidney.[9]
  • Extrarenal malignant rhabdoid tumor must be differentiated from desmoplastic small round cell tumor, rhabdomyosarcoma, and other soft tissue tumors.[10]
  • Almost all reported cases of malignant rhabdoid tumor, regardless of site of origin, occur in young children between birth and 2 years of age.[11]
  • In approximately 10% of cases of renal malignant rhabdoid tumor, the patients subsequently develop intracranial atypical teratoid rhabdoid tumor.
  • Common complication of malignant rhabdoid tumor include hypercalcemia, secondary to elevated parathyroid hormone levels.[12]
  • Prognosis is generally poor, with a reported mortality rate of patients with malignant rhabdoid tumor is 80 to 100%.[13]
  • According to the Children’s Oncology Group (COG) staging system, there are 5 stages of malignant rhabdoid tumor.
Staging Characteristic findings

Stage I

  • Tumor is involving single kidney and its completely resectable. behind. No tumor mass left behind. Renal capsule isn't breached by surgery. Blood vessels are not involved.

Stage II

  • Tumor invades beyond the renal capsule into the neighboring fatty tissue or blood vessels, but its completely resectable. No tumor mass left behind. Abdominal or pelvic lymph nodes are tumor-free.

Stage III

  • Tumor mass that is not completely resectable. Residual tumor is confined to the abdomen. One or more features that may be present that include:
    • Tumor involves abdominal and pelvic lymph nodes
    • Tumor invades the nearby vital structures
    • Tumor implants deposited on the peritoneal surface
    • Spillage of the tumor into th peritoneal cavity before or after surgery
    • Separate excision of the tumor at multiple sites (e.g., kidney and adrenals)
    • Pre-operative biopsy is done

Stage IV

  • Hematogenous spread of the tumor to distant organs such as lung, brain, bones, liver, or to the distant lymph node meetastasis

Stage V

  • Tumor observed in bilateral kidneys
  • Symptoms of malignant rhabdoid tumor of kidney include:[12]
  • Laboratory findings consistent with the diagnosis of malignant rhabdoid tumor include:[14]
  • Complete blood count: Reduced hemoglobin
  • Liver function test: Elevated liver enzymes
  • Urinalysis: Microscopic hematuria
  • Serum calcium measurement: Elevated serus calcium (hypercalcemia)
  • 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, observed in 20-50% of cases and is typically linear and tends to outline tumur lobules.[15]
  • The predominant therapy for malignant rhabdoid tumor is surgical resection. Adjunctive chemotherapy may be required.[16]

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.[2]
  • In 1982, Gonzalez-Crussi et al first described malignant rhabdoid tumor of the liver.[6][17]
  • In 1989, Rootman et al were the first to originally describe primary malignant tumor of the orbit.[18][19]

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:[20][21][22][23][24][25][26][27][28]

S.No. Disease Symptoms Signs Diagnosis Comments
Abdominal Pain Hematuria Headache Abdominal mass Abdominal tenderness Ultrasonography CT scan Histology
1. Wilms tumor + + - + +
  • Wilms tumor has a triphasic appearance.
  • It is comprised of 3 types of cells:
  • All the 3 types are not required for the diagnosis of Wilms tumor.
  • Primitive tubules and glomeruli are often seen comprised of neoplastic cells.
  • Beckwith and Palmer reported in NWTS the different histopathologic types of Wilms tumor to categorize them based on prognosis.[32]
2. Renal cell carcinoma + + +/- + -
  • Ultrasound (US) may be helpful when CT scan results are equivocal. It is noteworthy to mention that not all renal cell carcinomas are detectable on ultrasound.
 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 + + - + -
  • 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, observed in 20-50% of cases and is typically linear and tends to outline tumor lobules.
  • 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.
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:[33][34]

  • At least three unilateral or bilateral cysts in patients 15 - 39 years old
  • Atleast two cysts in each kidney in patients 40 - 59 years old
  • Atleast four cysts in each kidney in patients 60 years of age or older

Renal CT scan may be helpful in the diagnosis of polycystic kidney disease. Findings on CT scan diagnostic of ADPKD include:

  • Numerous renal cysts of varying size and shape with little intervening parenchyma with water attenuation and very thin wall.
  • Reduction in sinus fat due to expansion of the cortex
  • Occasional complex cysts with hyperdense appearance, with possible septations or calcifications
  • Multiple homogeneous and hypoattenuating cystic lesions in the liver in patients with liver involvement
  • On microscopic histopathological analysis, interstitial fibrosis, tubular atrophy, thickening and lamellation of tubular basement membranes, microcysts and negative immunofluorescence for complement and immunoglobulin are characteristic findings of ADPKD.[35][36][37][38]
5. Pheochromocytoma - - + (as a part of the hypertension paroxysm) - -
  • CT is the preferred imaging modality for the diagnosis of pheochromocytoma.
 The following findings may be observed on CT scan:[39]
  • On microscopic pathology, Pheochromocytoma typically demonstrates a nesting (Zellballen) pattern on microscopy. This pattern is composed of well-defined clusters of tumor cells containing eosinophilic cytoplasm separated by fibrovascular stroma.
6. Burkitt lymphoma +/- (in non-endemic or sporadic form of the disease) - - - -
  • Chest, abdomen, and pelvis CT scan may be helpful in the diagnosis of Burkitt's lymphoma but it is not done routinely.[43]
  • On microscopic histopathological analysis, characteristic findings of Burkitt's lymphoma include:[44]
  • Medium-sized (~1.5-2x the size of a RBC) with uniform size ("monotonous") -- key feature (i.e. tumor nuclei size similar to that of histiocytes or endothelial cells)
  • Round nucleus
  • Small nucleoli
  • Relatively abundant cytoplasm (basophilic)
  • Brisk mitotic rate and apoptotic activity
  • Cellular outline usually appears squared off
  • "Starry-sky pattern":
  • The stars in the pattern are tingible-body macrophages (macrophages containing apoptotic tumor cells.
  • The tumour cells are the sky
7. Intussusception + - - +/- +
  • Ultrasound is the gold standard imaging modality used to diagnose intussusception[45]
    • Target or doughnut sign[46]
      • Edematous intussuscipien forms an external ring around the centrally located intussusceptum
      • Target sign is usually seen in right lower quadrant
    • Layers of intussusception forms pseudo-kidney appearance on the transverse view
  • CT scan may be helpful in the diagnosis of intussusception. CT scan maybe used when other image modalities like x-ray and ultrasound have not given positive results but suspicion of intussusception is high.
  • Intussusception occurs if there is an imbalance between the longitudinal and radial smooth muscle forces of intestine that maintain its normal structure. This imbalance leads to a segment of intestine to invaginate into another segment and cause entero-enteral intussusception. Etiology of intussusception is either idiopathic or pathologic (lead point). 
8. Hydronephrosis + +/- - - + (CVA tenderness in case of pyelonephritis)
  • In the case of renal colic (one sided loin pain usually accompanied by a trace of blood in the urine) the initial investigation is usually an intravenous urogram. This has the advantage of showing whether there is any obstruction of flow of urine causing hydronephrosis as well as demonstrating the function of the other kidney. Many stones are not visible on plain x ray or IVU but 99% of stones are visible on CT and therefore CT is becoming a common choice of initial investigation.
  • The kidney undergoes extensive dilation with atrophy and thinning of the renal cortex.
9. Dysplastic kidney N/A N/A N/A N/A N/A

MCDK is usually diagnosed by ultrasound examination before birth.

  • Mass of non-communicating cysts of variable size.
  • Unlike severe hydronephrosis, in which the largest cystic structure (the renal pelvis) lies in a central location and is surrounded by dilated calices, in multicystic dysplastic kidney the cyst distribution shows no recognizable pattern.
  • Dysplastic, echogenic parenchyma may be visible between the cysts, but no normal renal parenchyma is seen.
  • MCKD can be discovered accidentally on CT scan.
  • CT scan shows myltiple cysts with absence of renal parenchyma.
  • MCKD is the result of abnormal differentiation of the renal parenchyma.
10. Pediatric Neuroblastoma + - - +/- +/-
  • CT scan is the investigation of choice for the diagnosis of neuroblastoma.[48]
  • On CT scan, neuroblastoma is characterized by:[49]
  • On microscopic histopathological analysis the presence of round blue cells separated by thin fibrous septa are characteristic findings of neuroblastoma.
  • Other findings of neuroblastoma on light microscopy may include:[50]
  • Homer-Wright rosettes (rosettes with a small meshwork of fibers at the center)
  • Neuropil-like stroma (paucicellular stroma with a cotton candy-like appearance)
11. Pediatric Rhabdomyosarcoma + +/- +/- - +/- On CT scan, rhabdomyosarocma is characterized by:
  • Soft tissue density
  • Some enhancement with contrast
  • Adjacent bony destruction (over 20% of cases)
12. Mesoblastic nephroma + + - + -
  • Ultrasound may be helpful in the diagnosis of mesoblastic nephroma.
  • Mesoblastic nephroma may presents as a well-defined mass with low-level homogeneous echoes.[51]
  • The presence of concentric echogenic and hypoechoic rings can be a helpful diagnostic feature of mesoblastic nephroma.
  • CT scan may be helpful in the diagnosis of mesoblastic nephroma.
  • Findings on CT scan suggestive of mesoblastic nephroma include:
  • Solid hypoattenuating renal lesion
  • Variable contrast enhancement
  • No calcification

Classic mesoblastic nephroma

Cellular mesoblastic nephroma

  • Plump cells with vesicular nuclei
  • Well-defined border
  • Mitotically active

Mixed mesoblastic nephroma

  • Both classic pattern and cellular pattern areas are present
 Most common renal tumor that occurs in 1st month of life

Epidemiology and Demographics

  • Malignant rhabdoid tumor mostly occur in infants. The median reported age is about 22.5 months.[52]
  • 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.[2]

Natural History, Complications, and Prognosis

  • Malignant rhabdoid tumor may easily metastasize to other parts of the body.
  • Common complications of malignant rhabdoid tumor include spontaneous tumor rupture.[6]
  • Thrombotic pulmonary microangiopathy (pulmonary tumor embolism syndrome) may be seen in adults patients with metastasis to the lungs.[2]
  • The overall survival rate ranges from about 22% to 42%.[53]
  • In adults, the prognosis is poor with the survival time after diagnosis being only a few months.[2]
  • Factors associated with significantly reduced survival include metastases/multifocal disease, younger age, infratentorial location, and less than complete remission at the end of chemotherapy.[53][54]
  • Neither tumor volume at diagnosis nor pre-operative chemosensitivity affects the outcome.[55]

Diagnosis

History and Symptoms

  • A positive history of fever, abdominal distension is suggestive of malignant rhabdoid tumor of the liver.[6]
  • Common symptoms of malignant rhabdoid tumor of the liver include:[6]
  • Irritability
  • Reluctance to eat
  • Fever
  • Abdominal pain
  • Common symptoms of malignant rhabdoid tumor of the orbit include:
  • Proptosis

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:[6]
  • Presence of hyperechoic lesions in the liver

CT Scan

  • Abdominal CT scan may be helpful in the diagnosis of malignant rhabdoid tumor. Findings on CT scan suggestive of/diagnostic of malignant rhabdoid tumor include:[6]
  • Homogenously hypodense lesion/lesions in the liver

MRI

  • Abdominal MRI may be helpful in the diagnosis of malignant rhabdoid tumor. Findings on MRI suggestive of/diagnostic of malignant rhabdoid tumor include:[6]
  • Hypointense lesions on T1-weighted (W) and hyperintense on T2-W images

Treatment

Medical Therapy

  • Malignant rhaboid tumor of the liver may be treated with complete tumor resection and aggressive chemotherapy. The chemotherapeutic agents used 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. In cases where the tumor is unresectable, a liver transplant may be done.[56][57][58]
  • 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.

Surgery

References

  1. ↑ Malignant rhabdoid tumour. Wikipedia 2015. https://en.wikipedia.org/wiki/Malignant_rhabdoid_tumour. Accessed on December 22, 2015
  2. ↑ 2.0 2.1 2.2 2.3 2.4 2.5 2.6 2.7 2.8 2.9 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.
  3. ↑ Malignant rhabdoid tumour. Libre Pathology 2015. http://librepathology.org/wiki/index.php/Malignant_rhabdoid_tumour. Accessed on December 23, 2015
  4. ↑ Genetics of malignant rhabdoid tumour. Wikipedia 2015. https://en.wikipedia.org/wiki/Malignant_rhabdoid_tumour. Accessed on December 22, 2015
  5. ↑ Rhabdoid tumours. Dr Ayush Goel and A.Prof Frank Gaillard et al. Radiopaedia 2015. http://radiopaedia.org/articles/rhabdoid-tumours. Accessed on December 22, 2015
  6. ↑ 6.00 6.01 6.02 6.03 6.04 6.05 6.06 6.07 6.08 6.09 6.10 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.
  7. ↑ 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.
  8. ↑ 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. ↑ Differential diagnosis of malignant rhabdoid tumour of the kidney. Dr Matt A. Morgan and Radswiki et al. Radioaedia 2015. http://radiopaedia.org/articles/malignant-rhabdoid-tumour-of-the-kidney. Accessed on December 23, 2015
  10. ↑ DDx of extrarenal malignant rhabdoid tumour. Libre pathology 2015. http://librepathology.org/wiki/index.php/Extrarenal_malignant_rhabdoid_tumour. Accessed on December 23, 2015
  11. ↑ Epidemiology of rhabdoid tumours. Dr Ayush Goel and A.Prof Frank Gaillard et al. Radiopaedia 2015. http://radiopaedia.org/articles/rhabdoid-tumours. Accessed on December 22, 2015
  12. ↑ 12.0 12.1 Clinical presentation of malignant rhabdoid tumour of the kidney. Dr Matt A. Morgan and Radswiki et al. Radiopaedia 2015. http://radiopaedia.org/articles/malignant-rhabdoid-tumour-of-the-kidney. Accessed on December 23, 2015
  13. ↑ Madan, Karan; Bal, Amanjit; Agarwal, Ritesh; Das, Ashim (2014). "Malignant Extra Renal Rhabdoid Tumour Presenting as Central Airway Obstruction". Case Reports in Pulmonology. 2014: 1–4. doi:10.1155/2014/950869. ISSN 2090-6846.
  14. ↑ Oita S, Terui K, Komatsu S, Hishiki T, Saito T, Mitsunaga T; et al. (2015). "Malignant rhabdoid tumor of the liver: a case report and literature review". Pediatr Rep. 7 (1): 5578. doi:10.4081/pr.2015.5578. PMC 4387326. PMID 25918621.
  15. ↑ Radiographic features of malignant rhabdoid tumor of the kidney. Dr Ayush Goel and A.Prof Frank Gaillard et al. Radiopaedia 2015. http://radiopaedia.org/articles/rhabdoid-tumours. Accessed on December 23, 2015
  16. ↑ How is malignant rhabdoid tumor treated? Dana-Farber and Boston Children's Cancer and Blood Disorder's Center 2015. http://www.danafarberbostonchildrens.org/conditions/solid-tumors/malignant-rhabdoid-tumor.aspx. Accessed on December 28, 2015
  17. ↑ 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.
  18. ↑ 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.
  19. ↑ Rootman J, Damji KF, Dimmick JE (1989). "Malignant rhabdoid tumor of the orbit". Ophthalmology. 96 (11): 1650–4. PMID 2694050.
  20. ↑ 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)
  21. ↑ J. F. De Campo (1986). "Ultrasound of Wilms' tumor". Pediatric radiology. 16 (1): 21–24. PMID 3003660.
  22. ↑ 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.
  23. ↑ 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)
  24. ↑ 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)
  25. ↑ 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)
  26. ↑ 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)
  27. ↑ 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)
  28. ↑ 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)
  29. ↑ Hartman DS, Sanders RC (April 1982). "Wilms' tumor versus neuroblastoma: usefulness of ultrasound in differentiation". J Ultrasound Med. 1 (3): 117–22. PMID 6152936.
  30. ↑ De Campo JF (1986). "Ultrasound of Wilms' tumor". Pediatr Radiol. 16 (1): 21–4. PMID 3003660.
  31. ↑ Cahan LD (1985). "Failure of encephalo-duro-arterio-synangiosis procedure in moyamoya disease". Pediatr Neurosci. 12 (1): 58–62. PMID 4080660.
  32. ↑ 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.
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  34. ↑ 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.
  35. ↑ 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.
  36. ↑ 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.
  37. ↑ 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.
  38. ↑ 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.
  39. ↑ Bravo EL (1991). "Pheochromocytoma: new concepts and future trends". Kidney Int. 40 (3): 544–56. PMID 1787652.
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  41. ↑ 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.
  42. ↑ Bravo EL (1991). "Pheochromocytoma: new concepts and future trends". Kidney Int. 40 (3): 544–56. PMID 1787652.
  43. ↑ Burkitt lymphoma. MedlinePlus. https://www.nlm.nih.gov/medlineplus/ency/article/001308.htm Accessed on September 30, 2015
  44. ↑ 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)
  45. ↑ 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.
  46. ↑ Boyle MJ, Arkell LJ, Williams JT (1993). "Ultrasonic diagnosis of adult intussusception". Am. J. Gastroenterol. 88 (4): 617–8. PMID 8470658.
  47. ↑ Neuroblastoma. Radiopaedia (2015) http://radiopaedia.org/articles/neuroblastoma Accessed on October, 8 2015
  48. ↑ Colon NC, Chung DH (2011). "Neuroblastoma". Adv Pediatr. 58 (1): 297–311. doi:10.1016/j.yapd.2011.03.011. PMC 3668791. PMID 21736987.
  49. ↑ Neuroblastoma. Radiopaedia (2015) http://radiopaedia.org/articles/neuroblastoma Accessed on October, 8 2015
  50. ↑ Neuroblastoma. Libre Pathology(2015) http://librepathology.org/wiki/index.php/Adrenal_gland#Neuroblastoma Accessed on October, 5 2015
  51. ↑ Mesoblastic nephroma.Dr Ayush Goel and Dr Yuranga Weerakkody et al. Radiopaedia.org 2015. http://radiopaedia.org/articles/mesoblastic-nephroma
  52. ↑ 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.
  53. ↑ 53.0 53.1 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.
  54. ↑ 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.
  55. ↑ 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.
  56. ↑ 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.
  57. ↑ 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.
  58. ↑ 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.

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