摘要目的:分析病理确诊的17例SMARCA4缺失型胸部肿瘤患者的临床特征及预后分析。方法:通过病理科结果查询系统收集济宁医学院附属医院2021年9月至2023年1月病理确诊的17例胸部SMARCA4缺失型胸部肿瘤患者，其中男16例，女1例，年龄42~74（64.0±5.7）岁。对患者一般情况、临床症状、肿瘤标志物、影像学特征、治疗及转归等进行回顾性分析。结果:纳入的17例患者中，仅1例女性无明确吸烟史，16例男性均有吸烟史，其中1例吸烟量5包年，余15例吸烟量均在20~100包年，平均（68.5±44.5）包年。临床症状主要表现为咳嗽、咳痰，其次为胸闷、咯血、胸痛。肿瘤标志物CYFRA19-9升高9例（3.79~16.61 ng/ml）、CEA升高8例（5.37~295.93 ng/ml）、NSE升高6例（17.18~70.37 ng/ml）。影像学表现为肺内或纵隔团块影，肿瘤累及纵隔9例，右肺上叶6例、左肺上叶5例、右肺下叶3例、左肺下叶3例；颈部或锁骨上淋巴结转移8例，胸膜转移4例，肝转移3例，脑转移3例，骨转移2例，皮下转移1例。病理结合免疫组化诊断SMARCA4缺失型非小细胞癌6例及SMARCA4缺失型未分化肿瘤11例。8例患者应用含铂双药化疗，其中4例联合免疫检查点抑制剂治疗；1例服用恩沙替尼治疗。上述9例患者中仅1例患者治疗后达部分缓解，余8例治疗后复查胸部CT提示肿瘤均较前进展。5例患者放弃治疗，随访6个月均死亡。3例患者行外科手术切除治疗，随访6个月均无明显进展。结论:对于大量吸烟的中老年男性，尤其影像学表现为肺内和（或）纵隔内团块影，病灶进展快、远处转移早的患者，需警惕SMARCA4缺失型胸部肿瘤。临床分期晚是患者总体生存不良的高危因素，含铂双药化疗联合免疫检查点抑制剂治疗可能有效，早期手术可改善患者预后。

abstractsObjective:To analyze the clinical characteristics and prognosis of 17 patients with pathologically confirmed SMARCA4-deficient chest tumors.Methods:Seventeen patients with SMARCA4-deficient thoracic tumors diagnosed by pathology in the Affiliated Hospital of Jining Medical University from September 2021 to January 2023 were collected through Results Query System of Pathology Department, and the patients′ general conditions, clinical symptoms, tumor markers, imaging features, treatment and regression were retrospectively analyzed, and literature review was performed.Results:A total of 17 patients were included in this study. Their clinical characteristics were characterized as follows: male/female=16/1, age 42-74 years, mean (64.0±5.7)years. Only 1 female had no clear smoking history, and 16 males had a smoking history, of whom 1 had 5 smoking pack-years, and the remaining 15 case had a smoking history of 20-100 smoking pack-years, with a mean of (68.5±44.5) smoking pack-years. Clinical symptoms were mainly cough and sputum, followed by chest tightness, hemoptysis and chest pain. Tumor markers CYFRA19-9 was elevated in 9 cases (3.79-16.61 ng/ml), CEA was elevated in 8 cases (5.37-295.93 ng/ml), and NSE was elevated in 6 cases (17.18-70.37 ng/ml). Imaging manifestations were intrapulmonary or mediastinal mass shadows, and the tumor involved the mediastinum in 9 cases, the upper lobe of the right lung in 6 cases, the upper lobe of the left lung in 5 cases, the lower lobe of the right lung in 3 cases, the lower lobe of the left lung in 3 cases; cervical or supraclavicular lymph node metastasis in 8 cases, pleural metastasis in 4 cases, hepatic metastasis in 3 cases, cerebral metastasis in 3 cases, bone metastasis in 2 cases, and subcutaneous metastasis in 1 case. Combining immuno-histochemistry and pathology, there were 6 cases of SMARCA4-deficient NSCLC and 11 cases of SMARCA4-deficient undifferentiated tumor. Eight patients were treated with platinum-contained chemotherapy agents, four of which were combined with immune checkpoint inhibitors, and one was treated with enzatinib; only one of the 9 patients achieved partial remission after treatment, and the remaining eight had progression of the tumors on chest CT after treatment. Five patients abandoned the treatment, and died in 6-month of follow-up. Three patients underwent surgery for resection, and there was no significant progression in the three patients in the 6 months of follow-up.Conclusions:Clinically, middle-aged and elderly men with a history of heavy smoking should be given high priority, especially in patients whose imaging mostly showed intrapulmonary, especially in upper lobes, and/or mediastinal masses, rapid lesion progression, and early distant metastasis, and who should be alerted to the possibility of SMARCA4-deficient thoracic tumors. Late clinical stage is a high risk factor for poor overall patient survival, and platinum-containing chemotherapy agents combined with immune checkpoint inhibitor therapy may be effective, and early surgery may improve patient prognosis.