肺癌病人痰液标本p53基因突变临床流行病学分析

目的]探讨痰液标本p53基因突变检测用于肺癌高危人群筛查和肺癌早期诊断方面的意义。方法]应用PCR鄄SSCP对63例肺癌患者和30例肺良性疾病的肺组织和痰液细胞中p53基因5～8外显子的突变进行了检测,并采用临床流行病学的方法进行分析。结果]肺癌病人组肺癌组织中p53基因突变率为49.2%(31/63),对照组组织中突变率为3.3%(1/30),两组差别有统计学意义(P<0.001)。肺癌组痰液标本中p53突变率为23.8%(15/63);肺良性疾病患者痰液中未发现p53基因突变。以痰液标本p53基因突变为诊断指标,诊断的敏感度为45.2%,特异度为96.8%,标化阳性预告值为93.5%,标化阴性预告值为63.9%,标化一致性为71.0%。结论]检测痰液中p53基因突变能间接反映其在肺组织中的改变,该方法可作为肺癌高危人群筛查以及肺癌诊断的无创性手段之一。

Clinical Epidemiological Study of Point Mutations in the p53 Genes in Sputum Samples from Patients with Lung Cancer

Purpose]To evaluate the value of detecting p53gene point mutations in sputum samples in the early diagnosis of lung cancer and screening of people at high risk of lung cancer.Methods]Surgical tissue samples and sputum samples were collected from63cases with lung cancer and30cases with pulmonary benign disease.The polymerase chain reaction-single strand conformation polymorphism(PCR-SSCP)was per-formed for the detection of point mutations at exons5~8of the p53gene.Clinical epidemiological evaluation was undertaken.Results]The detected mutation rate was49.2%(31/63)in the lung cancer surgical tissue samples group and significantly higher than that of3.3%(1/30)in the pulmonary benign disease group(P<0.001).In the lung cancer group,the p53mutation rate of sputum was23.8%(15/63).None mutations of p53were found in the sputa of patients with pulmonary benign disease.The sensitivity,specificity,standardizing positive predictive value,standardizing negative predictive value and standardizing accuracy of p53mutations as a diagnostic marker for lung cancer were45.2%,96.8%,93.5%,63.9%,and71.0%,respectively.The differ-ences both in rate and consistency were statistically significant(P<0.00).Conclusion]Detection of p53gene alterations in sputum samples by PCR-SSCP-silver stain can be used as index for the early diagnosis of lung cancer in suspicious patients.It is a noninvasive method and ideal for screening p53abnormalities.