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Hereditary SWI/SNF complex deficiency syndromes.

Abbas Agaimy1, William D Foulkes2

  • 1Institute of Pathology, Friedrich-Alexander-University Erlangen-Nürnberg, University Hospital Erlangen, Germany.

Seminars in Diagnostic Pathology
|February 5, 2018
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Summary
This summary is machine-generated.

The SWItch Sucrose non-fermentable (SWI/SNF) complex is crucial in epigenetic regulation and drives various cancers and developmental disorders. Understanding SWI/SNF alterations is key to diagnosing and treating these conditions.

Keywords:
Malignant rhabdoid tumorRhabdoid tumor predisposition syndromeSMARCA4SMARCB1SWI/SNF complexSmall cell carcinoma of ovary, hypercalcemic type

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Area of Science:

  • Molecular Biology
  • Epigenetics
  • Oncology

Background:

  • The SWItch Sucrose non-fermentable (SWI/SNF) complex is a key regulator of chromatin remodeling and gene expression.
  • Dysregulation of the SWI/SNF complex is implicated in numerous benign and malignant neoplasms.
  • Recent findings link SWI/SNF alterations to syndromic tumors and developmental disorders.

Purpose of the Study:

  • To review the role of SWI/SNF complex alterations in human diseases.
  • To focus on SWI/SNF-driven neoplasms and their genetic underpinnings.
  • To highlight the spectrum of SWI/SNF-related disorders, including tumors and developmental conditions.

Main Methods:

  • Literature review of studies on SWI/SNF complex and associated diseases.
  • Analysis of genetic alterations in SWI/SNF components (e.g., SMARCB1, SMARCA4, SMARCE1).
  • Categorization of SWI/SNF-driven diseases, emphasizing neoplasms.

Main Results:

  • SWI/SNF complex alterations are central to various cancers like atypical teratoid/rhabdoid tumors, malignant rhabdoid tumors, epithelioid sarcoma, and ovarian hypercalcemic small cell carcinoma.
  • Germline SWI/SNF alterations predispose to aggressive malignancies (rhabdoid tumor predisposition syndrome) and benign tumors (familial schwannomatosis, multiple meningiomas).
  • SWI/SNF-related disorders also encompass developmental disorders like Coffin-Siris syndrome and intellectual disability.

Conclusions:

  • The SWI/SNF complex is a critical player in a wide range of human diseases, particularly neoplasms.
  • Genetic alterations in SWI/SNF components are significant drivers of both cancerous and non-cancerous conditions.
  • Further research into SWI/SNF biology is essential for advancing diagnostics and therapeutics for these diverse disorders.