CAJ | 학술논문

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。
목적：연구폐암환자삼출액세포학급혈액표본중표피생장인자수체（EGFR）제18、19、21외현자기인돌변빈솔화류형이급여종류조직학표본적관계。방법：수집폐암환자삼출액세포학표본53례급혈액표본24례，제취 DNA，취합매련반응확증 EGFR 외현자18、19、21서렬，용직접측서법검측기인서렬，분석 EGFR기인돌변빈솔화류형이급여종류조직학표본적관계。결과：53례세포학표본검측도15례 EGFR 기인돌변（28.3%，15/53），18외현자돌변1례，19외현자돌변5례，21외현자돌변9례，세포학표본여폐선암조직학표본돌변솔（32.2%）상비，차이몰유현저성（P =0.624）。24례혈액표본중검측도1례돌변（4.2%，1/24），위우21외현자，혈액표본여종류조직학표본돌변솔상비，차이유현저성（P =0.006）。결론：폐암환자삼출액세포학표본괄용우직접측서법검측 EGFR 돌변，혈액표본불괄우용직접측서법검측종류 EGFR 기인돌변상태。
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.