35岁以下肺癌患者基因突变状态及生存分析

Analysis of gene mutation status and prognosis in lung cancer patients younger than 35 years old： a retrospective study

目的 分析35岁以下肺癌患者基因突变状态与预后的关系.方法 对52例〈35岁肺癌患者临床资料（年龄、性别、吸烟状态、初发临床表现、影像特点、疾病分期、治疗方案）、表皮生长因子受体（EGFR）突变、棘皮动物微管结合蛋白4-间变性淋巴瘤激酶（EML4-ALK）融合基因突变状态和生存状态进行回顾性分析.结果 52例患者中,女性较多（59.6%）,腺癌最为常见（78.8%）.47例为非小细胞肺癌,0～ⅢA期17例,ⅢB～Ⅳ30例,其中Ⅳ期27例.22例非小细胞肺癌患者行EGFR和EML4-ALK基因检测,7例（31.8%）EGFR突变阳性,6例（27.3%）EML4-ALK融合基因阳性.ALK阳性患者胸部CT影像表现为单发实质性肿块或结节的患者比例达83.3%,EGFR突变患者初诊即为Ⅳ期的比例达71.4%.50例随访患者的中位生存时间为24.6个月;分期早晚、手术与否、是否有基因突变是影响中位生存时间的主要因素.结论 年龄〈35岁的肺癌患者以女性、腺癌、晚期居多;其EGFR、ALK基因突变检出率高于一般肺癌人群,ALK阳性患者胸部CT影像表现以单发实质性肿块或结节多见,EGFR突变患者初诊时大部分已达Ⅳ期;分期较早、行手术治疗、有基因突变等因素提示有较好预后.

Objective To analyze the correlation between gene mutation status and prognosis in lung cancer patients younger than 35 years old.Methods Totally 52 cases of lung cancer were enrolled. The clinical feathers （including age,gender,smoking,initial manifestation,radiologic characteristics, disease stages,treatment modalities）,epidermal growth factor receptor （EGFR） and EML4-ALK mutation status as well as the prognosis were retrospectively evaluated.Results In the 52 lung cancer patients,female patients took a higher proportion （59.6%）.Most of the cases were pathologically diagnosed as adenocarcinoma（78.8%）.Of the 47 non-small cell lung cancer patients,17 cases were stage 0-ⅢA while other 30 cases in stage ⅢB-Ⅳ,including 27 cases in stage Ⅳ.EGFR mutation and EML4-ALK fusion gene were detected in 22 patients with non-small cell lung cancer,in which seven cases （31.8%）harboring EGFR mutation,and six cases（27.3%）were EML4-ALK positive.83.3% of EML4-ALK positive patients had single substantial masses or nodules according to chest CT scans.71 .4% EGFR mutated patients were diagnosed at stage Ⅳ.The median survival was 24.6 months in a cohort of 50 patients receiving regular follow-up.Different stages,surgical operation and gene mutation status were the key factors affecting the survival.Conclusions Lung cancer patients younger than 35 years old have several unique characteristics：more female patients,more adenocarcinoma,and more advanced stage cases. EGFR and EML4-ALK mutation are frequent in this group of patients compared to general lung cancer patients.EML4-ALK positive patients mostly have single substantial masses or modules according to chest CT scans.EGFR mutated patients are usually diagnosed at stage Ⅳ.The early stage,treatment of surgical operation and mutated gene are related to favorable outcome.