SWI/SNF 相关妇科间叶性肿瘤的最新进展：SMARCA4 缺陷型子宫肉瘤和 SMARCB1 缺陷型外阴肿瘤。
Update on SWI/SNF-related gynecologic mesenchymal neoplasms: SMARCA4-deficient uterine sarcoma and SMARCB1-deficient vulvar neoplasms.
机构信息
Department of Pathology, Stanford University School of Medicine, Stanford, California, USA.
Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.
出版信息
Genes Chromosomes Cancer. 2021 Mar;60(3):190-209. doi: 10.1002/gcc.22922. Epub 2020 Dec 14.
Our knowledge regarding the role of genes encoding the chromatin remodeling switch/sucrose non-fermenting (SWI/SNF) complex in the initiation and progression of gynecologic malignancies continues to evolve. This review focuses on gynecologic tumors in which the sole or primary genetic alteration is in SMARCA4 or SMARCB1, two members of the SWI/SNF chromatin remodeling complex. In this review, we present a brief overview of the classical example of such tumors, ovarian small cell carcinoma of hypercalcemic type, and then a detailed review and update of SMARCB1-deficient and SMARCA4-deficient tumors of the uterus and vulva.
我们对于编码染色质重塑开关/蔗糖非发酵（SWI/SNF）复合物的基因在妇科恶性肿瘤的发生和进展中的作用的了解仍在不断发展。本综述重点介绍了唯一或主要遗传改变发生在 SMARCA4 或 SMARCB1（SWI/SNF 染色质重塑复合物的两个成员）中的妇科肿瘤。在本综述中，我们简要介绍了此类肿瘤的经典范例，即高钙血症型卵巢小细胞癌，然后详细回顾和更新了子宫和外阴的 SMARCB1 缺陷和 SMARCA4 缺陷肿瘤。
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