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SWI/SNF complex-deficient soft tissue neoplasms: An update.

Inga-Marie Schaefer1, Jason L Hornick1

  • 1Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.

Seminars in Diagnostic Pathology
|July 11, 2020
PubMed
Summary

The SWItch Sucrose Non-Fermentable (SWI/SNF) chromatin remodeling complex is crucial for gene regulation and its deficiency is linked to various cancers. This review details SWI/SNF complex roles in soft tissue neoplasms, correlating morphology, genomics, and immunohistochemistry.

Keywords:
BAFMesenchymalSMARCA2SMARCA4SMARCB1SWI/SNF complexSarcomaSoft tissue

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Area of Science:

  • Epigenetics and Molecular Biology
  • Cancer Genomics
  • Pathology

Background:

  • The SWItch Sucrose Non-Fermentable (SWI/SNF) complex is a key ATP-dependent chromatin remodeler regulating gene transcription.
  • Its functions antagonize Polycomb Repressive Complex 2, influencing cell proliferation and differentiation.
  • Mutations in SWI/SNF subunits are implicated in various human cancers, often presenting with rhabdoid cytomorphology.

Purpose of the Study:

  • To review the biological functions of the SWI/SNF complex.
  • To provide an update on recent advances in soft tissue neoplasms associated with SWI/SNF complex deficiency.
  • To correlate morphologic, genomic, and immunohistochemical findings in these tumors.

Main Methods:

  • Literature review of SWI/SNF complex functions and cancer associations.
  • Analysis of recent studies on soft tissue neoplasms with SWI/SNF deficiency.
  • Correlation of cytomorphology, genetic mutations, and immunohistochemical markers.

Main Results:

  • SMARCB1 (INI1) deficiency is a hallmark in malignant rhabdoid tumors, epithelioid sarcoma, and chordoma.
  • SMARCB1 loss is also observed in subsets of myoepithelial carcinoma, extraskeletal myxoid chondrosarcoma, epithelioid schwannoma, and epithelioid malignant peripheral nerve sheath tumors.
  • SMARCA4 inactivation defines undifferentiated thoracic sarcomas, and alternative subunit deficiencies can occur.

Conclusions:

  • SWI/SNF complex dysfunction is a significant driver in specific soft tissue neoplasms.
  • Understanding these deficiencies through morphologic, genomic, and immunohistochemical analysis is crucial for diagnosis and potentially therapeutic strategies.
  • Further research into SWI/SNF-deficient tumors will refine classification and treatment approaches.