非小细胞肺癌中BRAF V600、EGFR基因突变与临床病理特征的关系

摘要

Purpose To study the status of BRAF V600 and EGFR mutations in patients with non-small cell lung cancer (NSCLC) and to examine the relations between them.Methods BRAF V600 and EGFR mutations were detected with DNA sequencing.The relationship between BRAF V600,EGFR mutations and the clinicopathological features were analyzed.Results BRAF V600 mutations were detected in 11 (7.5％) of the 146 specimens.BRAF V600 mutations were found morelfrequently in non-smokers (P =0.045).There were no significant differences in age,gender,histological subtype and differentiation between patients with and without BRAF V600 mutations (P ＞ 0.05).EGFR mutations were detected in 68 (46.6％) of the 146 specimens.EGFR mutations were found more frequently in women,non-smokers and adenocarcinoma (P ＜ 0.05).Four tumors with BRAF V600 mutations (three V600 and one V600D) showed concomitant EGFR mutations (two DEL and two L858R).Conclusion BRAF V600 mutations in patients with NSCLC are found more frequently in non-smokers.There are no significant differences in age,gender,histological subtype and differentiation between patients with and without BRAF mutations.%目的 探讨非小细胞肺癌(non-small cell lung cancer,NSCLC)中BRAF V600、EGFR基因突变及其与临床病理特征的关系.方法 采用PCR-DNA测序法检测146例NSCLC标本中BRAF V600、EGFR基因突变情况,并分析基因突变与临床病理特征的关系.结果 BRAF V600基因突变率为7.5％ (11/146),与患者吸烟史有关(P=0.045),而与患者性别、年龄、组织学类型及分化程度等无关(P＞0.05).EGFR基因突变率为46.6％ (68/146),多见于女性、不吸烟、腺癌患者(P＜0.05).共检测出4例同时具有BRAF V600(3例V600E及1例V600D)及EGFR基因突变(19号外显子缺失2例,21号外显子L858R突变2例),两者未见相关性(P＞0.05).结论 NSCLC患者BRAF V600基因突变与患者性别、年龄、组织学类型及分化程度等无关,多见于无吸烟史患者.