Division of Anatomical Pathology, Laboratory Medicine Programme, University Health Network, Toronto, Canada.
Department of Histopathology, Brighton and Sussex University Hospitals, Brighton; United Kingdom and Deciphex Ltd, Ireland.
Semin Diagn Pathol. 2021 May;38(3):195-198. doi: 10.1053/j.semdp.2020.11.001. Epub 2020 Nov 27.
The SWItch Sucrose non-fermentable (SWI/SNF) complex is a large, multi-subunit ATP-dependent nucleosome remodeling complex that acts as a tumor suppressor by modulating transcription. Mutations of SWI/SNF subunits have been described in relation to developmental disorders, hereditary SWI/SNF deficiency syndromes, as well as malignancies. In this review we summarize the current literature in regards to SWI/SNF-deficient tumors of the luminal gastrointestinal tract (GIT) and pancreas. As a group they range from moderately to undifferentiated tumors composed of monotonous anaplastic cells, prominent macronucleoli and a variable rhabdoid cell component. Deficiency of a SWI/SNF subunit is typified by complete loss of nuclear staining by immunohistochemistry for respective subunit.
SWItch 蔗糖非发酵（SWI/SNF）复合物是一种大型的、多亚基的 ATP 依赖性核小体重塑复合物，通过调节转录起肿瘤抑制因子的作用。SWI/SNF 亚基的突变与发育障碍、遗传性 SWI/SNF 缺乏综合征以及恶性肿瘤有关。在这篇综述中，我们总结了关于腔肠道（GIT）和胰腺的 SWI/SNF 缺陷肿瘤的当前文献。作为一个整体，它们从中度到未分化的肿瘤，由单调的间变性细胞、突出的巨核仁以及可变的横纹肌样细胞成分组成。SWI/SNF 亚基的缺陷表现为免疫组织化学对相应亚基的核染色完全缺失。
