Update on SWI/SNF-related gynecologic mesenchymal neoplasms: SMARCA4-deficient uterine sarcoma and SMARCB1-deficient vulvar neoplasms

Genes Chromosomes Cancer. 2021 Mar;60(3):190-209. doi: 10.1002/gcc.22922. Epub 2020 Dec 14.

Abstract

Our knowledge regarding the role of genes encoding the chromatin remodeling switch/sucrose non-fermenting (SWI/SNF) complex in the initiation and progression of gynecologic malignancies continues to evolve. This review focuses on gynecologic tumors in which the sole or primary genetic alteration is in SMARCA4 or SMARCB1, two members of the SWI/SNF chromatin remodeling complex. In this review, we present a brief overview of the classical example of such tumors, ovarian small cell carcinoma of hypercalcemic type, and then a detailed review and update of SMARCB1-deficient and SMARCA4-deficient tumors of the uterus and vulva.

Keywords: SMARCA4; SMARCB1; SWI/SNF; uterine neoplasms; vulvar neoplasms.

Publication types

  • Review

MeSH terms

  • Chromatin Assembly and Disassembly
  • Chromosomal Proteins, Non-Histone / genetics
  • Chromosomal Proteins, Non-Histone / metabolism*
  • DNA Helicases / deficiency*
  • DNA Helicases / genetics
  • DNA Helicases / metabolism
  • Female
  • Humans
  • Nuclear Proteins / deficiency*
  • Nuclear Proteins / genetics
  • Nuclear Proteins / metabolism
  • Ovarian Neoplasms / genetics
  • Ovarian Neoplasms / metabolism*
  • SMARCB1 Protein / deficiency*
  • SMARCB1 Protein / genetics
  • SMARCB1 Protein / metabolism
  • Sarcoma / genetics
  • Sarcoma / metabolism
  • Transcription Factors / deficiency*
  • Transcription Factors / genetics
  • Transcription Factors / metabolism*
  • Uterine Neoplasms / genetics
  • Uterine Neoplasms / metabolism*
  • Vulvar Neoplasms / genetics
  • Vulvar Neoplasms / metabolism*

Substances

  • Chromosomal Proteins, Non-Histone
  • Nuclear Proteins
  • SMARCB1 Protein
  • SMARCB1 protein, human
  • SWI-SNF-B chromatin-remodeling complex
  • Transcription Factors
  • SMARCA4 protein, human
  • DNA Helicases