Loss of BRG1 (SMARCA4) Immunoexpression in a Pediatric Non-Central Nervous System Tumor Cohort

Author:

Saunders Jessica12,Ingley Katrina23,Wang Xiu Qing2,Harvey Melissa23,Armstrong Linlea24,Ng Tony25,Dunham Christopher12,Bush Jonathan12

Affiliation:

1. Division of Anatomical Pathology, British Columbia Children’s Hospital and Women’s Hospital and Health Center, Vancouver, British Columbia, Canada

2. University of British Columbia, Vancouver, British Columbia, Canada

3. Division of Pediatric Hematology/Oncology/BMT, British Columbia Children’s Hospital and Women’s Hospital and Health Center, Vancouver, British Columbia, Canada

4. Department of Medical Genetics, British Columbia Children’s Hospital and Women’s Hospital and Health Center, Vancouver, British Columbia, Canada

5. Division of Anatomical Pathology, Vancouver General Hospital, Vancouver, British Columbia, Canada

Abstract

Malignant rhabdoid tumors and atypical teratoid/rhabdoid tumors of the central nervous system are primitive malignancies associated with a poor prognosis. These tumors have previously been characterized by inactivation of the switch/sucrose nonfermenting (SWI/SNF) chromatin remodeling complex protein integrase interactor 1 (INI1), encoded by the SMARCB1 gene. In the last decade, sporadic publications have shown that a different SWI/SNF protein, brahma-related gene 1 (BRG1), encoded by the SMARCA4 gene, is associated with a similar rhabdoid phenotype and possible germline mutation termed rhabdoid tumor predisposition syndrome type 2. We sought to determine the presence of BRG1 expression in pediatric embryonal tumors. Using a local tissue microarray consisting of 28 tumors diagnosed as having an undifferentiated, polyphenotypic, or rhabdoid morphology, expression of BRG1 by immunohistochemistry was performed. Four cases showed loss of INI1, while 3 of the remaining 24 cases demonstrated loss of BRG1. Two cases were diagnosed as soft tissue sarcomas, and 1 case was diagnosed as a small cell carcinoma of the ovary, hypercalcemic type. Survival ranged from less than 6 months after diagnosis to more than 5 years at the time of last follow-up. In conclusion, we demonstrate that BRG1 immunohistochemistry is a useful second-line immunostain for the workup of undifferentiated, polyphenotypic or rhabdoid pediatric tumors that demonstrate retained expression of INI1.

Publisher

SAGE Publications

Subject

General Medicine,Pathology and Forensic Medicine,Pediatrics, Perinatology and Child Health

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