伴SMARCA4缺失的非小细胞肺癌5例临床病理学特征

Clinicopathological features of 5 cases of non-small cell lung cancer with SMARCA4 deficient

目的探讨伴SMARCA4缺失的非小细胞肺癌(SMARCA4-deficient non-small lung cancer,SMARCA4-dNSCLC)的临床病理学特征。方法回顾性分析5例SMARCA4-dNSCLC临床资料,肿瘤组织均进行HE、免疫组化染色及分子检测,分析其临床病理特征并复习相关文献。结果5例均为男性,平均发病年龄66岁。5例均有吸烟病史,3例以咳嗽咳痰、痰中带血为首发症状就诊,1例因肺结核病史伴肢体活动障碍就诊,1例为体检发现肺结节。镜下观察肿瘤细胞分化较差,呈实性巢片状分布,部分呈腺样结构,肿瘤细胞胞质丰富,呈嗜酸性或透明样,核染色质空泡状,核仁可见,核分裂象常见。间质可见炎细胞浸润及片状坏死。免疫组化染色示5/5弥漫表达CK(AE1/AE3)和CK7,5/5 BRG1表达缺失,1/5弥漫表达p40和CK5/6,Ki67增殖指数20%~90%,4例行FISH检测均检出SMARCA4基因缺失。5例患者随访2~15个月,3例死亡,2例存活。结论SMARCA4-dNSCLC具有广泛的形态学特征,恶性程度高,治疗复杂,分子检测BRG1缺失有助于诊断,加深对其的认识能帮助临床正确选择治疗策略并准确评估患者预后。

Purpose To investigate the clinical pathologic features of five SMARCA4-deficient non-small lung cancers(SMARCA4-dNSCLCs).Methods Five cases of SMARCA4-dNSCLC was underwent by HE,immunohistochemical staining,and molecular detection,analyzed their clinicopathological characteristics and reviewed relevant literatures.Results All 5 cases were male,and mean age was 66 years.Five patients had a history of smoking,three patients were treated with cough and blood in sputum as the first symptom,one was treated with a history of pulmonary tuberculosis combined with limb mobility disorder,and one was diagnosed with pulmonary nodules by physical examination.Under microscopic observation,tumor cells were poorly differentiated,with solid nest sheet distribution,some with glandular structure,tumor cells had abundant eosinophilic or transparent cytoplasm,vacuolar nuclear chromatin,nucleoli was visible,and nuclear mitosis was common.Inflammatory cell infiltration and sheet of necrosis were seen in the stroma.Immunohistochemical staining showed 5/5 diffuse expression of CK(AE1/AE3)and CK7,5/5 loss expression of BRG1,1/5 diffuse expression of p40 and CK5/6,and Ki67 proliferating index ranged from 20%to 90%.FISH tests showed that 4/4 SMARCA4 genes missed.Five patients were followed up for 2-15 months,3 patients died and 2 patients survived.Conclusions SMARCA4-dNSCLC can have extensive morphological features,high degree of malignancy,and complicated treatment.BRG1 deficiency is helpful for diagnosis.Deepening the understanding of SMARCA4-dNSCLC can help the clinical correct choice of treatment strategies and accurately evaluate patient prognosis.