SMARCA4-deficient undifferentiated tumor of the stomach. EndoTODAY 이준행

[Gastric cancer 932. SMARCA4-deficient undifferentiated tumor of the stomach]

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SMARCA4-deficient undifferentiated tumor는 2015년 프랑스의 LE Loarer 등이 보고한 드문 암종이다. 원인은 inactivating mutations in the SMARCA4 gene of the SWI/SNF chromatin remodeling complex이다.

SMARCA4 gene, which is located on chromosome 19p and encodes the Brahma-relate gene 1 protein, one of the two mutually exclusive catalytic subunits of SWI-SNF chromatin remodeling complex.

SWI-SNF complex plays an important role in transcription, replication, DNA repair and recombination, regulation of gene expression, and cell cycle regulations. The SWI-SNF complex has become a new class of tumor supressor genes. Mutations in SWI-SNF subnutes or associated proteins present in approximately 20% of human cancers.

SMARCA4-deficient undifferentiated tumor - it is not uncommonly misdiagnosed as a wide variety of poorly differentiated or undifferentiated tumors. 36097904

Gastric carcinoma with SMARCA4 deficient - 2016년 Agaimy 등에 의하여 처음 보고됨. 2024년 case seriese까지 29예가 보고됨. Microscopically, it displays high-grade undifferentiated histological morphology with rhabdoid cell differentiation. Rarely does the tumor contain a purely or partly adenocarcinoma component. 38380366

stomach biopsy

representative case - 38380366