Kidney tumor - cysts, children, adult benign - Rhabdoid tumor of the kidney

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Kidney tumor - cysts, children, adult benign

Childhood neoplasms

Rhabdoid tumor of the kidney

Reviewers: Mandolin Ziadie, M.D. (see Reviewers page)
Revised: 13 January 2012, last major update January 2012
Copyright: (c) 2003-2012, PathologyOutlines.com, Inc.

General
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● Highly aggressive renal tumor of infancy

Epidemiology
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● 1-2% of childhood renal tumors
● 60% are < 1 year old, 30% are 1-3 years old, rare > 5 years
● 15% are associated with PNET in the midline posterior fossa

Age distribution

Clinical features
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● Very aggressive; 82% present with metastases; 90% die in 2 years
● Usually stage 2 or higher; 9% are bilateral

Case reports
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● Two male neonates with presentation as skin metastasis (Arch Pathol Lab Med 1998;122:1099)
● 10 year old girl with pelvic tumor (Arch Pathol Lab Med 2003;127:633)
● 38 year old woman (Arch Pathol Lab Med 2003;127:e371)

Treatment
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● High dose chemotherapy, possibly autologous hematopoietic stem cell transplant (Pediatr Blood Cancer 2009;52:888)

Gross description
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● Small, fleshy / hemorrhagic tumor with ill-defined margins involves medullary region
● Satellite lesions may be present

Gross images
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Soft tan tumor; round lobulated mass

Micro description
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● Diffuse sheets, trabecula or alveolar pattern of large monomorphic cells with well defined cell borders
● Aggressive invasive patern
● Neoplastic cells have pink cytoplasm with eccentric nuclei due to intracytoplasmic inclusions of eosinophilic hyaline globules
● Chromatin is clear / vesicular with central, large nucleoli
● Occasionally cells are spindled; variable necrosis and mitoses

Micro images
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High grade tumor with abundant cytoplasm, perinuclear inclusions and prominent nucleoli

Aggressive infiltration of vessels in renal parenchyma and sinus is characteristic

Sheets of tumor cells surround glomerulus

Rhabdoid and medullary tumors, H&E and INI1

Patterns (left to right): epithelioid, hyalinizing, chondroid

10 year old girl - Fig 1: CT shows large calcified mass in pelvic brim, fig 2/3: nodules of large, cells with well defined cell borders, abundant eosinophilic cytoplasm pushing nuclei to periphery, karyotype shows +X, +2 +7 plus other changes

38 year old woman - various images

Positive stains
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● Keratin (particularly CK8), vimentin, EMA, desmin and neurofilament

Negative stains
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● Muscle markers, neural markers, WT1 and HSNF5 / INI1 (nuclear stain, Am J Surg Pathol 2004;28:1485, Mod Pathol 2006;19:717)

Electron microscopy
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● Hyaline globules composed of tangled intermediate filaments

Molecular description
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● Deletions or mutations of hSNF5 / INI1 / SMARCB1 gene at 22q11.2 (use FISH, OMIM 601607), which is associated with loss of INI1 nuclear staining (Pathology 2008;40:664)
● Note: this alternation is also seen in renal medullary carcinoma (Mod Pathol 2008;21:647) and epithelioid sarcoma (Am J Surg Pathol 2009;33:542)

Differential diagnosis
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Tumors that may have rhabdoid features focally, but are IN1+ include:
● Collecting duct carcinoma
● Ewing’s / PNET
● Mesoblastic nephroma
● Renal cell carcinoma
● Urothelial carcinoma
● Wilms’ tumor

Additional references
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● Am J Surg Pathol 1989;13:439, eMedicine

End of Kidney tumor - cysts, children, adult benign > Childhood neoplasms > Rhabdoid tumor of the kidney

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