表皮生长因子受体突变的肺腺癌转化为小细胞肺癌患者特点探索

Clinical characteristics of epidermal growth factor receptor-mutated advanced adenocarcinoma transformed into small-cell lung cancer

目的探讨表皮生长因子受体(EGFR)突变型肺腺癌向小细胞肺癌(SCLC)转化患者的临床和基因组学特点。方法报道4例EGFR突变的肺腺癌转化为SCLC患者的临床资料、病理形态、免疫组织化学和基因检测结果,结合文献对其进行探讨。结果EGFR突变型肺腺癌在临床表现和基因组学上具有异质性,患者常以RB1、TP53、PIK3CA等突变为主要特征,但具体转化机制仍不明确,神经元特异性烯醇化酶(NSE)等肿瘤指标对转化的诊断价值不高,转化后即使EGFR突变仍然存在,EGFR酪氨酸激酶抑制剂(EGFR-TKi)治疗也无效。结论EGFR突变的肺腺癌转化为SCLC是EGFR-TKi耐药的原因之一,是一种特别具有攻击性的靶外耐药机制,预后较差。

Objective To explore the clinicopathological characteristics and genomic characteristics of four patients with epidermal growth factor receptor(EGFR)-mutated advanced adenocarcinoma transformed into small-cell lung cancer.Methods Four cases of EGFR-mutated advanced adenocarcinoma of the lung transformed into small-cell lung cancer were studied by clinical data,pathological morphology,immunohistochemistry and gene detection.Result EGFR-mutated adenocarcinoma of the lung was heterogeneous in clinical and genomic profiles,of ten characterized by RB1,TP53 and PIK3CA mutations.Its transformation into small-cell lung cancer was a particularly aggressive mechanism of drug resistance,but the machanisms were not clear NSE and other tumor indicators had low diagnostic value for transformation.Conclusions EGFR-mutated adenocarcinoma of the lung transformed into small-cell lung cancer was one of the reasons for EGFR resistance with avery poor prognosis.