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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 value of combined detection of DPC4 and LKB1 mutations in bronchoalveolar lavage fluid (BALF) in the differential diagnosis of pulmonary X-ray isolated masses. Methods Ninety-nine patients with isolated pulmonary shadow were selected by X-ray. Among them, 39 patients with non-small cell lung cancer (NSCLC) and 10 non-cancerous patients received polymerase chain reaction-single strand conformation polymorphism -SSCP) was used to detect the mutations of exon 8 to exon 11 and exon 1 to exon 9 of LKB1 in DPC4 in BALF. Results There were 3 cases of DPC4 deletion, 12 cases mutation, 10 cases LKB1 mutation and 1 case of NSCLC with DPC4 and LKB1 mutations in 39 NSCLC patients. None of the non-cancer control group had no tumor suppressor gene deletion or mutation detected. The sensitivity of combined detection of DPC4 and LKB1 in the diagnosis of NSCLC (61.5%, 24/39) was significantly higher than that of DPC4 or LKB1 (P <0.05). Conclusion The detection of mutations of DPC4 or LKB1 gene in BALF by PCR-SSCP can be used as an auxiliary index to differentiate benign and malignant pulmonary solitary masses and contribute to the early diagnosis and staging of lung cancer. It may have some clinical value. Combined detection Both genes have higher sensitivity than single detection.