SWI/SNF complex-deficient soft tissue neoplasms: An update.
BAF
Mesenchymal
SMARCA2
SMARCA4
SMARCB1
SWI/SNF complex
Sarcoma
Soft tissue
Journal
Seminars in diagnostic pathology
ISSN: 0740-2570
Titre abrégé: Semin Diagn Pathol
Pays: United States
ID NLM: 8502262
Informations de publication
Date de publication:
May 2021
May 2021
Historique:
received:
17
04
2020
revised:
12
05
2020
accepted:
18
05
2020
pubmed:
11
7
2020
medline:
29
10
2021
entrez:
11
7
2020
Statut:
ppublish
Résumé
The SWItch Sucrose Non-Fermentable (SWI/SNF) chromatin remodeling complex is a large multi-subunit protein assembly that orchestrates chromatin compaction and accessibility for gene transcription in an ATP-dependent manner. As a key epigenetic regulator, the SWI/SNF complex coordinates gene expression, cell proliferation and differentiation, and its biologic functions, in part, antagonize the polycomb repressive complex 2. The mammalian SWI/SNF complex consists of 15 subunits encoded by 29 genes, some of which are recurrently mutated in human cancers, in the germline or sporadic setting. Most SWI/SNF-deficient tumors share common "rhabdoid" cytomorphology. SMARCB1 (INI1) is the subunit most frequently inactivated in soft tissue neoplasms. Specifically, SMARCB1 deficiency is observed as the genetic hallmark in virtually all malignant rhabdoid tumors, and most cases of epithelioid sarcoma and poorly differentiated chordoma. In addition, subsets of myoepithelial carcinoma (10-40%), extraskeletal myxoid chondrosarcoma (20%), epithelioid schwannoma (40%), and epithelioid malignant peripheral nerve sheath tumor (70%) demonstrate SMARCB1 loss. The gene encoding the SS18 subunit is involved in the SS18-SSX rearrangement, which is pathognomonic of synovial sarcoma and indirectly inactivates SMARCB1. Finally, undifferentiated SMARCA4-deficient thoracic sarcomas are defined by SMARCA4 subunit inactivation, leading to SMARCA4 and SMARCA2 loss. Rarely, inactivation of alternate but biologically equivalent key regulators can substitute for canonical subunit deficiency, such as SMARCA4 inactivation in cases of SMARCB1-retained epithelioid sarcoma. This review briefly highlights SWI/SNF complex biologic functions and its roles in human cancer and provides a detailed update on recent advances in soft tissue neoplasms with canonical SWI/SNF complex deficiency, correlating morphologic, genomic, and immunohistochemical findings.
Identifiants
pubmed: 32646614
pii: S0740-2570(20)30045-9
doi: 10.1053/j.semdp.2020.05.005
pmc: PMC7993547
mid: NIHMS1681213
pii:
doi:
Substances chimiques
Chromosomal Proteins, Non-Histone
0
Nuclear Proteins
0
Transcription Factors
0
Sucrose
57-50-1
SMARCA4 protein, human
EC 3.6.1.-
DNA Helicases
EC 3.6.4.-
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
222-231Subventions
Organisme : NCI NIH HHS
ID : K08 CA241085
Pays : United States
Informations de copyright
Copyright © 2020 Elsevier Inc. All rights reserved.
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