肺癌穿刺标本表皮生长因子受体基因突变检测的临床价值

The Clinical Value of Epidermal Growth Factor Receptor Gene Mutations in Lung Cancer Specimens Obtained By Needle Aspiration

目的评价肺癌穿刺针吸活检标本表皮生长因子受体(EGFR)基因突变检测的临床应用价值。方法对46例ⅢB～Ⅳ期肺癌患者行CT引导肺部病灶针吸活检术,应用PCR直接测序法检测穿刺标本EGFR外显子19及21突变。结果 (1)46例中腺癌40例、鳞癌3例、小细胞癌1例、未分化癌2例。(2)46例中EGFR突变24例;40例腺癌中23例发生突变,3例鳞癌中1例突变;30例女性中有20例突变,16例男性中有4例突变。(3)13例EGFR突变病例接受表皮细胞生长因子受体酪氨酸激酶抑制剂(EGFR-TKI)治疗6周后首次评估均为部分缓解(PR)。肿瘤进展时间(TTP)最短12周,最长102周。结论 CT导向肺癌针吸活检标本能有效检测EGFR突变,可为进展期肺癌应用EGFR-TKI靶向药物治疗筛选优势人群。

Objective To evaluate the clinical value of epidermal growth factor receptor（EGFR） gene mutations in lung cancer by needle aspiration biopsy.Methods 46 patients with advanced lung cancer were enrolled in this study.All patients underwent CT guided transthoracic needle aspiration biopsy of the lung tumor.The biopsy specimens were sent for histopathological study,EGFR gene mutations was taken with PCR and direct sequencing method was used to detect deletion mutation and point mutation in exon 19 or 21.Results（1）Histological results included adenocarcinoma（n=40）,squamous cell carcinoma（n=3）,small cell lung cancer（n=1） and poorly differentiated carcinomas（n=2）.（2）EGFR gene mutations were detected in 24 of the 46 lung tumors.Of 40 adenocarcinoma lesions,EGFR gene mutations were detected in 23.Of 3 squamous cell carcinoma lesions,EGFR gene mutations were detected in 1.Among 30 females patients,EGFR gene mutations were detected in 20.Among 16 males patients,EGFR gene mutations were detected in 4.（3）In 24 patients with EGFR gene mutations,13 patients were treated with inhibitors of the tyrosine kinase of epidermal growth factor receptor（EGFR TKI）.After six weeks,all 13 patients were benefited（partial response） from the treatment.The shortest time of tumor progression（TTP） was 12 weeks,and the longest TTP was 102 weeks.Conclusion CT guided transthoracic needle aspiration biopsy of the lung tumor can detect EGFR gene mutations effectively.Detection of EGFR gene mutation can be used to choose patients with advanced lung cancer who can obtain benefit from EGFR TKI treatment.