Objective: To investigate and elucidate the clinicopathological and prognostic characteristics of SMARCA4-deficient non-small cell lung cancer. Methods: The clinicopathological and prognostic data were collected in 127 patients with SMARCA4-deficient non-small cell lung cancer diagnosed in Shanghai Pulmonary Hospital, Shanghai, China from January 2020 to March 2022. The variation and expression of biomarkers related to treatment were retrospectively reviewed. Results: One hundred and twenty-seven patients were eligible for enrollment. Among them 120 patients (94.5%) were male and 7 cases (5.5%) were female, while the average age was 63 years (range 42-80 years). There were 41 cases (32.3%) of stage Ⅰ cancer, 23 cases (18.1%) of stage Ⅱ, 31 cases (24.4%) of stage Ⅲ and 32 cases (25.2%) of stage Ⅳ. SMARCA4 expression detected by immunohistochemistry was completely absent in 117 cases (92.1%) and partially absent in 10 cases (7.9%). PD-L1 immunohistochemical analyses were performed on 107 cases. PD-L1 was negative, weakly positive and strongly positive in 49.5% (53/107), 26.2% (28/107) and 24.3% (26/107) of the cases, respectively. Twenty-one cases showed gene alterations (21/104, 20.2%). The KRAS gene alternation (n=10) was most common. Mutant-type SMARCA4-deficient non-small cell lung cancer was more commonly detected in females, and was associated with positive lymph nodes and advanced clinical stage (P<0.01). Univariate survival analysis showed that advanced clinical stage was a poor prognosis factor, and vascular invasion was a poor predictor of progression-free survival in patients with surgical resection. Conclusions: SMARCA4-deficient non-small cell lung cancer is a rare tumor with poor prognosis, and often occurs in elderly male patients. However, SMARCA4-deficient non-small cell lung cancers with gene mutations are often seen in female patients. Vascular invasion is a prognostic factor for disease progression or recurrence in patients with resectable tumor. Early detection and access to treatment are important for improving patient survivals.
目的： 探讨SMARCA4缺失性非小细胞肺癌患者的临床病理学特点及预后。 方法： 收集2020年1月至2022年3月上海市肺科医院经病理确诊的SMARCA4缺失性非小细胞肺癌127例患者的临床病理学资料及预后信息，并检测治疗相关生物标志物的变异及表达情况。 结果： 127例SMARCA4缺失性非小细胞肺癌患者中，男性120例（94.5%），女性7例（5.5%）；平均年龄63岁（年龄范围42~80岁）。临床分期Ⅰ期41例（32.3%），Ⅱ期23例（18.1%），Ⅲ期和Ⅳ期分别为31例（24.4%）和32例（25.2%）。SMARCA4免疫组织化学完全缺失表达117例（92.1%），部分缺失表达10例（7.9%）；107例免疫组织化学检测PD-L1表达，PD-L1呈阴性、低表达和高表达比例分别为49.5%（53/107）、26.2%（28/107）和24.3%（26/107）；靶向基因变异21例（21/104，20.2%），KRAS突变（n=10）为最常见突变类型。基因突变型SMARCA4缺失性非小细胞肺癌患者多见于女性，且与淋巴结阳性、临床分期晚相关（P<0.01）。生存分析显示临床分期晚是所有患者预后不良的影响因素，脉管阳性是手术患者疾病进展或复发的高危因素。 结论： SMARCA4缺失性非小细胞肺癌是一类少见、预后差的肿瘤，常发生于老年男性患者，而伴有靶向基因变异的SMARCA4缺失性非小细胞肺癌常见于女性患者。脉管阳性是手术患者疾病进展或复发的高危因素。早发现、早治疗是改善患者预后的重要途径。.