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<p><i>SMARCA4</i>, encoding the BRG1 protein, is a crucial component of the SWI/SNF chromatin remodeling complex, essential for regulating gene expression and maintaining genomic integrity; our <i>knowledge</i> regarding the role of these genes continues to evolve. Deficiency or loss of <i>SMARCA4</i> expression has been implicated in the development and progression of various gynecological neoplasms, notably small cell carcinoma of the ovary, hypercalcemic type (SCCOHT), SMARCA4-deficient uterine sarcoma, and some subtypes of endometrial carcinoma such as undifferentiated or dedifferentiated carcinoma. Given its central role in oncogenesis, targeting SMARCA4-deficient tumors has become an area of active research, with potential therapeutic strategies above all in these aggressive gynecological tumor subtypes. This review summarizes current knowledge of the role of SMARCA4 deficiency in gynecological cancers, discussing the morphological and immunophenotypic characteristics of the different entities, emphasizing clinical implications and potential targeted therapies. Further understanding of its structure, function, and therapeutic vulnerabilities is crucial for improving patient outcomes.</p>

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An update on the role of SMARCA4 deficiency in gynecological neoplasms: how and where

  • 期刊论文

  • 发表日期：

    2025年12月26日

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  • Livia Maccio,
  • Emma Bragantini,
  • Giuseppe Angelico,
  • Giulia Scaglione,
  • Antonio De Leo,
  • Angela Santoro,
  • Gian Franco Zannoni

摘要

SMARCA4, encoding the BRG1 protein, is a crucial component of the SWI/SNF chromatin remodeling complex, essential for regulating gene expression and maintaining genomic integrity; our knowledge regarding the role of these genes continues to evolve. Deficiency or loss of SMARCA4 expression has been implicated in the development and progression of various gynecological neoplasms, notably small cell carcinoma of the ovary, hypercalcemic type (SCCOHT), SMARCA4-deficient uterine sarcoma, and some subtypes of endometrial carcinoma such as undifferentiated or dedifferentiated carcinoma. Given its central role in oncogenesis, targeting SMARCA4-deficient tumors has become an area of active research, with potential therapeutic strategies above all in these aggressive gynecological tumor subtypes. This review summarizes current knowledge of the role of SMARCA4 deficiency in gynecological cancers, discussing the morphological and immunophenotypic characteristics of the different entities, emphasizing clinical implications and potential targeted therapies. Further understanding of its structure, function, and therapeutic vulnerabilities is crucial for improving patient outcomes.