Hibi K, Nakayama H, Yamazaki T, Takase T, Taguchi M, Kasai Y, Ito K, Akiyama S, Nakao A
Second Department of Surgery, Nagoya University School of Medicine, Nagoya, Japan.
Int J Cancer. 2001 May 1;92(3):319-21. doi: 10.1002/ijc.1204.
It has been reported that various cancers frequently have mutations in the D-loop region of mitochondrial DNA (mtDNA). We examined the genetic alterations in this region of esophageal cancer using direct sequencing. Of 68 sequence variants, 15 have not been reported to date. Tumor mtDNA with these variants were compared with mtDNA from corresponding normal esophageal mucosa. Two of 37 primary esophageal cancers (5%) contained somatic mutations in the D-loop region of mtDNA. Although the mutation rate of mitochondrial tumor DNA within the D-loop was not high, this result suggested that mtDNA mutations play a role in the development of esophageal cancer.
据报道，多种癌症在线粒体DNA（mtDNA）的D环区域经常发生突变。我们使用直接测序法检测了食管癌该区域的基因改变。在68个序列变异中，有15个迄今为止尚未见报道。将带有这些变异的肿瘤mtDNA与相应正常食管黏膜的mtDNA进行比较。37例原发性食管癌中有2例（5%）在mtDNA的D环区域存在体细胞突变。虽然D环内线粒体肿瘤DNA的突变率不高，但这一结果表明mtDNA突变在食管癌的发生发展中起作用。
