周围型非小细胞肺癌患者支气管肺泡灌洗液p53基因突变及其临床意义

DETECTION OF P53 GENE MUTATIONS IN BRONCHIALALVEOLAR LAVAGE FLUIDSAMPLEOFPERIPHERALNONSMALL-CELLLUNGCANCERPATIENTS AND ITS CLINICAL IMPLICATIONS

目的:DHPLC分析周围型非小细胞肺癌患者支气管肺泡灌洗液标本p53突变及其作为分子诊断标记的可行性。方法:DHPLC分析46例支气管肺泡灌洗液标本(33例肺癌,13例对照)p53基因Exon5～9突变。结果:肺癌组p53突变检出率36．36％(15／33),对照组未检出一例,两组p53突变率比较具有明显差异(P< 0．05);p53突变作为肺癌诊断分子标记,灵敏度36．36％(12／33),特异度100％(13／13)。结论:DHPLC分析周围型非小细胞肺癌患者支气管肺泡灌洗液标本p53基因热点突变可以作为周围型肺癌诊断的分子标记,但在支气管肺泡灌洗液标本检测单一基因突变不能满足临床诊断的需要。

Objectives：To probe p53 gene mutations at their hot-spots by DHPLC analysis in bronchial alveolar lavage fluid （BALF） samples of peripheral lung cancer patients and evaluate the feasibility as an gene markers for lung cancer diagnosis.Methods：Genomic DNAs were extracted from 46 sputum samples （33 of lung cancer, 13 of benign lung disease） and their parallel peripheral blood lymphoid cells. To subject the genomic DNAs to PCR amplification of p53 gene at exon 5-9. The mutations of p53 were detected by denaturing high-performance liquid chromatography （DHPLC）analyzing the PCR products.Results：Of 46 BALF samples, p53 gene mutation detection rates were 36.36%（15/33） in lung cancer group and 0%（0/12） in control group （P=0.033）. The sensitivity and specificity were 36.36% and 100% respectively by using p53 gene mutation detection as a diagnostic marker for lung cancer.Conclusions：Albeit p53 gene mutation detected by DHPLC in BALF is eligible to be as a molecular marker for peripheral lung cancer diagnosis, it cannot attain to be a clinical diagnostic avenue for lung cancer due to its lower sensitivity.