联合检测支气管肺泡灌洗液中DPC4和LKB1突变诊断肺部孤立块影的价值

Combined Detection of DPC4 and LKB1 Mutation in Bronchoalveolar Lavage Fluid for Early Diagnosis of Lung Lump

目的探讨联合检测支气管肺泡灌洗液（BALF）中DPC4和LKB1突变对鉴别肺部X线孤立块影良恶性的价值。方法选择X线检查有肺部孤立块影的患者49例,其中非小细胞肺癌（NSCLC）患者39例,非癌对照组10例,用聚合酶链式反应-单链构象多态性（PCR-SSCP）法检测BALF中DPC4第8-11外显子、LKB1第1-9外显子的突变情况。结果 39例NSCLC患者中DPC4缺失3例,突变12例,LKB1突变10例,1例NSCLC患者同时发生DPC4和LKB1突变,非癌对照组均未检测出抑癌基因缺失或突变。联合检测DPC4和LKB1诊断NSCLC的灵敏度（61.5%,24/39）较单独检测DPC4或LKB1显著增高（P〈0.05）。结论用PCR-SSCP技术检测BALF中DPC4或LKB1基因突变可作为鉴别肺部孤立块影良恶性的辅助指标之一,有助于肺癌的早期诊断和分期,可能具有一定的临床应用价值,联合检测两种基因较单独检测灵敏度更高。

Objective To investigate the combined detection of DPC4 and LKB1 mutation in bronchoalveolar lavage fluid（BALF）for early diagnosis of lung lump.Methods Forty-nine patients with lung lump were divided into two groups：lung cancer group（n=39）and non-cancer control group（n=10）.BALF was obtained from a radiologically affected lung segment and DNA was extracted.Exon 8-11 of DPC4 and Exon 1-9 of LKB1 were amplified by polymerase chain reaction（PCR）,followed by single strand conformation polymorphism（SSCP）analysis.Results DPC4 was absent in 3 cases of lung cancer group,and DPC4 and LKB1 mutation was noted in 12 and 10 of 39 lung cancer patients respectively.Neither DPC4 nor LKB1 mutation was detected in non-cancer control group.Combined detection of DPC4 and LKB1（61.5%）was more sensitive than that of the single detection of DPC4 or LKB1（P0.05）.Conclusion Detecting gene mutation of DPC4 or LKB1 in BALF by PCR-SSCP analysis might be a useful method to identify lung lump character and helpful to early diagnosis of lung cancer,which might be a valuable approach to clinical application.The combined detection of DPC4 and LKB1 is far more sensitive than that of the single detection of DPC4 or LKB1.