Review of SMARCA4 (BRG1)-deficient carcinomas following a malignant pleural effusion specimen confounded by reduced claudin-4 expression

Caroline A. Early, Sintawat Wangsiricharoen, Robert M. Jones, Christopher J. VandenBussche

Research output: Contribution to journalReview articlepeer-review

Abstract

SMARCA4-deficient neoplasms are recently characterized high-grade malignancies associated with a poor prognosis. The SMARCA4 gene encodes BRG1, which is part of the SWI/SNF complex. SMARCA4-deficient neoplasms have an undifferentiated, often rhabdoid morphology, and demonstrate loss of BRG1 nuclear expression on immunohistochemistry. These neoplasms have become increasingly recognized and diagnosed in tissue specimens, but their features in cytologic specimens are poorly defined in the literature. The review is introduced by a diagnostically challenging case of a SMARCA4-deficient carcinoma involving a pleural fluid specimen in which the carcinoma cells demonstrated greatly reduced claudin-4 expression in the setting of strong, diffuse BerEP4 expression. Most of the malignant cells also demonstrated positive cytoplasmic staining for PAS and all were PAS-diastase negative, suggesting that the cytoplasm contained glycogen granules.

Original languageEnglish (US)
JournalJournal of the American Society of Cytopathology
DOIs
StateAccepted/In press - 2020

Keywords

  • BRG1
  • Cancer
  • INI1
  • Pleural fluid
  • Poorly differentiated carcinoma
  • SMARCA4

ASJC Scopus subject areas

  • Pathology and Forensic Medicine

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