Molecularly confirmed primary malignant rhabdoid tumor of the urinary bladder: Implications of accurate diagnosis

Natasha Savage, Dan Linn, Colleen McDonough, Jeffrey M. Donohoe, Arie Franco, Victor Reuter, Paul W. Biddinger, Katherine W. Eaton, Jaclyn A. Biegel, Suash Sharma

Research output: Contribution to journalArticle

15 Citations (Scopus)

Abstract

Malignant rhabdoid tumors (MRTs) are well recognized in the kidney and extrarenal sites such as soft tissues, retroperitoneum, and bladder but are classified as atypical teratoid/rhabdoid tumors in the central nervous system. The unifying features of both extracranial MRT and atypical teratoid/rhabdoid tumors are the exon deletions/mutations of the SMARCB1 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1) gene in 22q11.23 and resulting loss of SMARCB1/INI1 (integrase interactor 1) protein expression by immunohistochemistry. We herein report a case of extrarenal rhabdoid tumor confined to the bladder in a 3-year-old child, diagnosed by histopathology and confirmed by immunohistochemical and molecular studies. This is only the fourth molecularly proven primary MRT of the bladder to be reported. The patient's peripheral blood was negative for the deletions observed in the tumor, thereby confirming a sporadic origin for the tumor. Given the possible dismal outcome, urgency for definitive diagnosis to institute intensive multimodality therapy, histopathologic differential diagnosis with rhabdomyosarcoma and urothelial carcinoma with rhabdoid features, and lack of consensus management guidelines, oncologists, urologists, and pathologists must be aware of this entity. Evaluation for a germ line SMARCB1 alteration may greatly aid risk stratification and family planning.

Original languageEnglish (US)
Pages (from-to)504-507
Number of pages4
JournalAnnals of Diagnostic Pathology
Volume16
Issue number6
DOIs
StatePublished - Dec 1 2012

Fingerprint

Rhabdoid Tumor
Urinary Bladder Neoplasms
Urinary Bladder
Rhabdomyosarcoma
Sequence Deletion
Family Planning Services
Germ Cells
Chromatin
Actins
Exons
Neoplasms
Differential Diagnosis
Central Nervous System
Immunohistochemistry
Guidelines
Carcinoma
Kidney
Genes
Typical Teratoid Rhabdoid Tumor
Atypical Teratoid Tumor

Keywords

  • ATRT
  • Bladder
  • INI-1
  • Molecular
  • Pediatric
  • Rhabdoid tumor

ASJC Scopus subject areas

  • Pathology and Forensic Medicine

Cite this

Molecularly confirmed primary malignant rhabdoid tumor of the urinary bladder : Implications of accurate diagnosis. / Savage, Natasha; Linn, Dan; McDonough, Colleen; Donohoe, Jeffrey M.; Franco, Arie; Reuter, Victor; Biddinger, Paul W.; Eaton, Katherine W.; Biegel, Jaclyn A.; Sharma, Suash.

In: Annals of Diagnostic Pathology, Vol. 16, No. 6, 01.12.2012, p. 504-507.

Research output: Contribution to journalArticle

Savage, Natasha ; Linn, Dan ; McDonough, Colleen ; Donohoe, Jeffrey M. ; Franco, Arie ; Reuter, Victor ; Biddinger, Paul W. ; Eaton, Katherine W. ; Biegel, Jaclyn A. ; Sharma, Suash. / Molecularly confirmed primary malignant rhabdoid tumor of the urinary bladder : Implications of accurate diagnosis. In: Annals of Diagnostic Pathology. 2012 ; Vol. 16, No. 6. pp. 504-507.
@article{70e6ed3ad3444c8399ed6eed22a2a2c6,
title = "Molecularly confirmed primary malignant rhabdoid tumor of the urinary bladder: Implications of accurate diagnosis",
abstract = "Malignant rhabdoid tumors (MRTs) are well recognized in the kidney and extrarenal sites such as soft tissues, retroperitoneum, and bladder but are classified as atypical teratoid/rhabdoid tumors in the central nervous system. The unifying features of both extracranial MRT and atypical teratoid/rhabdoid tumors are the exon deletions/mutations of the SMARCB1 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1) gene in 22q11.23 and resulting loss of SMARCB1/INI1 (integrase interactor 1) protein expression by immunohistochemistry. We herein report a case of extrarenal rhabdoid tumor confined to the bladder in a 3-year-old child, diagnosed by histopathology and confirmed by immunohistochemical and molecular studies. This is only the fourth molecularly proven primary MRT of the bladder to be reported. The patient's peripheral blood was negative for the deletions observed in the tumor, thereby confirming a sporadic origin for the tumor. Given the possible dismal outcome, urgency for definitive diagnosis to institute intensive multimodality therapy, histopathologic differential diagnosis with rhabdomyosarcoma and urothelial carcinoma with rhabdoid features, and lack of consensus management guidelines, oncologists, urologists, and pathologists must be aware of this entity. Evaluation for a germ line SMARCB1 alteration may greatly aid risk stratification and family planning.",
keywords = "ATRT, Bladder, INI-1, Molecular, Pediatric, Rhabdoid tumor",
author = "Natasha Savage and Dan Linn and Colleen McDonough and Donohoe, {Jeffrey M.} and Arie Franco and Victor Reuter and Biddinger, {Paul W.} and Eaton, {Katherine W.} and Biegel, {Jaclyn A.} and Suash Sharma",
year = "2012",
month = "12",
day = "1",
doi = "10.1016/j.anndiagpath.2011.04.008",
language = "English (US)",
volume = "16",
pages = "504--507",
journal = "Annals of Diagnostic Pathology",
issn = "1092-9134",
publisher = "W.B. Saunders Ltd",
number = "6",

}

TY - JOUR

T1 - Molecularly confirmed primary malignant rhabdoid tumor of the urinary bladder

T2 - Implications of accurate diagnosis

AU - Savage, Natasha

AU - Linn, Dan

AU - McDonough, Colleen

AU - Donohoe, Jeffrey M.

AU - Franco, Arie

AU - Reuter, Victor

AU - Biddinger, Paul W.

AU - Eaton, Katherine W.

AU - Biegel, Jaclyn A.

AU - Sharma, Suash

PY - 2012/12/1

Y1 - 2012/12/1

N2 - Malignant rhabdoid tumors (MRTs) are well recognized in the kidney and extrarenal sites such as soft tissues, retroperitoneum, and bladder but are classified as atypical teratoid/rhabdoid tumors in the central nervous system. The unifying features of both extracranial MRT and atypical teratoid/rhabdoid tumors are the exon deletions/mutations of the SMARCB1 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1) gene in 22q11.23 and resulting loss of SMARCB1/INI1 (integrase interactor 1) protein expression by immunohistochemistry. We herein report a case of extrarenal rhabdoid tumor confined to the bladder in a 3-year-old child, diagnosed by histopathology and confirmed by immunohistochemical and molecular studies. This is only the fourth molecularly proven primary MRT of the bladder to be reported. The patient's peripheral blood was negative for the deletions observed in the tumor, thereby confirming a sporadic origin for the tumor. Given the possible dismal outcome, urgency for definitive diagnosis to institute intensive multimodality therapy, histopathologic differential diagnosis with rhabdomyosarcoma and urothelial carcinoma with rhabdoid features, and lack of consensus management guidelines, oncologists, urologists, and pathologists must be aware of this entity. Evaluation for a germ line SMARCB1 alteration may greatly aid risk stratification and family planning.

AB - Malignant rhabdoid tumors (MRTs) are well recognized in the kidney and extrarenal sites such as soft tissues, retroperitoneum, and bladder but are classified as atypical teratoid/rhabdoid tumors in the central nervous system. The unifying features of both extracranial MRT and atypical teratoid/rhabdoid tumors are the exon deletions/mutations of the SMARCB1 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1) gene in 22q11.23 and resulting loss of SMARCB1/INI1 (integrase interactor 1) protein expression by immunohistochemistry. We herein report a case of extrarenal rhabdoid tumor confined to the bladder in a 3-year-old child, diagnosed by histopathology and confirmed by immunohistochemical and molecular studies. This is only the fourth molecularly proven primary MRT of the bladder to be reported. The patient's peripheral blood was negative for the deletions observed in the tumor, thereby confirming a sporadic origin for the tumor. Given the possible dismal outcome, urgency for definitive diagnosis to institute intensive multimodality therapy, histopathologic differential diagnosis with rhabdomyosarcoma and urothelial carcinoma with rhabdoid features, and lack of consensus management guidelines, oncologists, urologists, and pathologists must be aware of this entity. Evaluation for a germ line SMARCB1 alteration may greatly aid risk stratification and family planning.

KW - ATRT

KW - Bladder

KW - INI-1

KW - Molecular

KW - Pediatric

KW - Rhabdoid tumor

UR - http://www.scopus.com/inward/record.url?scp=84868525270&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84868525270&partnerID=8YFLogxK

U2 - 10.1016/j.anndiagpath.2011.04.008

DO - 10.1016/j.anndiagpath.2011.04.008

M3 - Article

C2 - 21775180

AN - SCOPUS:84868525270

VL - 16

SP - 504

EP - 507

JO - Annals of Diagnostic Pathology

JF - Annals of Diagnostic Pathology

SN - 1092-9134

IS - 6

ER -