非小细胞肺癌线粒体基因组大片段缺失突变研究

目的 明确mtDNA 4 977 bp大片段缺失在肺癌组织、癌旁正常组织及非癌患者肺组织中的分布频率,探讨mtDNA 4 977 bp大片段缺失与肿瘤的关系.方法 采用长距离PCR方法对37例肺癌组织和相应的癌旁正常组织、20例非癌患者正常肺组织mtDNA 4 977 bp缺失进行了检测.结果 肺癌组织、癌旁正常肺组织及非癌患者正常肺组织中均检测出存在有线粒体DNA 4 977 bp片段缺失.37例肺癌组织标本中有20例(54.1%)检测到4 977 bp缺失,37例相应的癌旁肺组织22例(59.5%)有缺失, 其中8例在肺癌组织中未显示而却在癌旁正常组织检测到缺失,20例非癌患者正常肺组织中也有6例出现 4 977 bp片段缺失.线粒体DNA 4 977 bp缺失与年龄、吸烟因素有关.结论 线粒体DNA 4 977 bp缺失并非肺癌特异性突变,在癌变过程中不太可能起重要的作用,而可能仅仅是肿瘤发生发展过程中环境和遗传因素作用的反映.

Study on 4 977 bp deletion mutation of mitochondrial DNA in non-small lung cancer

Objective To study the 4 977 bp deletion of mitochondrial DNA in lung cancer, paraneoplastic tissue and normal lung tissue from non-lung cancer subjects and its significance in the development of cancer. Methods Lung cancer tissues and paraneoplastic tissues from 37 non-small lung cancer patients, and normal lung tissues from 20 patients without lung cancer were analyzed by long PCR technique. Results Mitochondrial DNA 4 977 bp deletion was detected in 54.1%(20/37) of lung cancer tissues, 59.5%(22/37) of paraneoplastic tissues and 30.0%(6/30) of normal lung tissues. The correlation between 4 977 bp deletion and age, smoking was present in our data. Conclusion Mitochondrial DNA 4 977 bp deletion, which may reflect the environmental and genetic influences during tumor progression, is not specific to lung cancer and unlikely to play an important role in carcinogenesis.