SMARCA family of genes
SMARCA family of genes
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DOI：
10.1136/jclinpath-2020-206451
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发表时间：
2020-05-01
影响因子：
3.4
通讯作者：
Serra, Stefano
中科院分区：
文献类型：
--
作者：
Chetty, Runjan;Serra, Stefano
SMARCA亚组基因属于SWI1/SNF1家族，负责染色质重塑和修复。主要SMARCA基因A2和A4的失活突变导致细胞核内各自蛋白质的表达丧失，因此具有一系列由SMARCA缺乏症支持的恶性肿瘤的特征。这些肿瘤的形态从小到大的上皮样细胞、巨细胞和横纹肌样细胞不等。横纹肌细胞经常出现在这些肿瘤中，但不是诊断的必要条件。这些肿瘤大多为未分化或去分化的高级别多形性癌。局部可见分化较好的区域。smarca4缺陷型恶性肿瘤的最初描述是卵巢小细胞癌，高钙血症型。随后，在肺、胸腔、子宫内膜、鼻窦、胃肠道和肾脏中描述了符合这种特征形态和免疫表型的肿瘤。SMARCA2和SMARCA4的免疫组织化学损失可能同时发生或相互独立。smarca缺陷型恶性肿瘤是一类独特的肿瘤，具有典型的形态学和免疫组织化学特征。
The SMARCA subgroup of genes belong to the SWI1/SNF1 family that are responsible chromatin remodelling and repair. Inactivating mutations in the main SMARCA genes A2 and A4 lead to loss of expression of their respective proteins within the nucleus and, as such have characterised a set of malignancies that are underpinned by SMARCA-deficiency.The morphology of these tumours ranges from small to large epithelioid cells, giant cells and rhabdoid cells. The rhabdoid cells are frequently present in these tumours but are not a sine qua non for the diagnosis. Most of these tumours are undifferentiated or dedifferentiated, high-grade pleomorphic carcinomas. Focally, areas of better differentiation can be seen. The initial description of a SMARCA4-deficient malignancy was the small cell carcinoma of the ovary, hypercalcaemic type. Subsequently, tumours fitting this characteristic morphology and immunophenotype have been described in the lung, thoracic cavity, endometrium and sinonasal tract, gastrointestinal tract and kidney. Immunohistochemical loss of SMARCA2 and SMARCA4 may occur concomitantly or independently of each other.SMARCA-deficient malignant tumours represent a unique subset of tumours with typical morphological and immunohistochemical findings.