The Affiliated Suzhou Hospital of Nanjing Medical University
SMARCA4缺失的原发性胸部肉瘤是一类罕见原发于胸腔的恶性肿瘤，组织学上具有横纹肌样形态特征，并具有特征性免疫表型和分子型。在我国，目前仅有6例文献报道[1，2]。第5版世界卫生组织（World Health Organization,WHO）胸部肿瘤分类新增的肿瘤类型中，胸部SMARCA4缺陷型未分化肿瘤占据其一。SMARCA4基因编码在非小细胞肺癌（nonsmall-cell lung cancer,NSCLC）的突变率约为3-8%，其纯合缺失、融合或截短突变与蛋白的缺失及更高的肿瘤突变负荷紧密联系[3,4]。SMARCA4缺陷型NSCLC与SMARCA4缺陷型胸部肉瘤的对比分析与鉴别也是近年来的讨论研究热点。该型肿瘤临床侵袭性强，易发生远处转移，其治疗原则首选根治性手术，术后辅助放、化疗等综合治疗。我院近期收治的一例左上肺叶切除术后患者，病理结合免疫组化结果符合SMARCA4缺失的原发性胸部肉瘤，本文围绕其进行报道和文献复习。
SMARCA4-deficient thoracic sarcoma?(SMARCA4-DTS) is a rare malignant tumor which is mainly occurred in the chest. It has the characteristics of striated morphology and characteristic immunophenotype and molecular type. In China, there are only 6 literature reports[1，2]. Among the new types of breast tumors in the fifth edition of the World Health Organization (WHO), SMARCA4-DTS occupies one place. The mutation rate of smarca4 gene encoding in NSCLC is about 3-8%, and its homozygous deletion, fusion or truncation mutation is closely related to protein deletion and higher tumor mutation load [3,4]. The comparative analysis and identification of SMARCA4-deficient NSCLC and SMARCA4-DTS are also the hot topics in recent years. The type of tumor is aggressive and prone to distant metastasis. Radical operation is the first choice in the treatment principle, and the combined treatment of postoperative auxiliary radiotherapy and chemotherapy is preferred. A case of left upper lobectomy in our hospital recently was treated. The pathological and immunohistochemical results were in line with the SMARCA4-DTS. This paper reports and reviews the literature.