摘要
目的:研究肺癌患者渗出液细胞学及血液标本中表皮生长因子受体(EGFR)第18、19、21外显子基因突变频率和类型以及与肿瘤组织学标本的关系。方法:收集肺癌患者渗出液细胞学标本53例及血液标本24例,提取DNA,聚合酶链反应扩增EGFR外显子18、19、21序列,用直接测序法检测基因序列,分析EGFR基因突变频率和类型以及与肿瘤组织学标本的关系。结果:53例细胞学标本检测到15例EGFR基因突变(28.3%,15/53),18外显子突变1例,19外显子突变5例,21外显子突变9例,细胞学标本与肺腺癌组织学标本突变率(32.2%)相比,差异没有显著性(P=0.624)。24例血液标本中检测到1例突变(4.2%,1/24),位于21外显子,血液标本与肿瘤组织学标本突变率相比,差异有显著性(P=0.006)。结论:肺癌患者渗出液细胞学标本适用于直接测序法检测EGFR突变,血液标本不适于用直接测序法检测肿瘤EGFR基因突变状态。
Objective:To determine the frequency and type of epidermal growth factor receptor(EGFR)exon 18, 19,21 exon mutations in cytology and blood specimens from lung carcinomas. To explore the relationship of EGFR mu-tation from cytology versus histology specimes. Methods:All 53 cytology specimens and 24 blood specimens were col-lected from patients with lung cancer. The tissue DNA was abstracted and the exons 18,19,21 in EGFR gene were subjected for PCR amplification and direct sequencing. Results:EGFR mutations were detected in 15 of 53 cytology specimens(28. 3% ),the frequencies of EGFR mutations in exons 18,19 and 21 were 1. 9%(1 / 53),9. 4%(5 / 53) and 16. 9%(9 / 53),respectively. There were no signifiant differences in the EGFR mutation rate between cytology samples and histology samples(28. 3 % VS 32. 2% ,P = 0. 624),but significant differences were found in the blood samples(4. 2% ,1 / 24,located in the exon 21)compared with histology samples(P = 0. 006). Conclusion:The cur-rent results indicate that direct extraction and analysis of EGFR mutations from cytology samples can be performed successfully on a direct sequencing platform. Peripheral blood is not a suitable compartment for detection of tumor cells in lung cancer.
出处
《现代肿瘤医学》
CAS
2015年第9期1209-1212,共4页
Journal of Modern Oncology
关键词
肺癌
表皮生长因子受体
外显子
基因突变
细胞学
lung neoplasm
epidermal growth factor receptor
exon
genetic mutations
cytology