Department of Otolaryngology, Taichung Veterans General Hospital, Taichung, Taiwan.
Eur Arch Otorhinolaryngol. 2012 Jun;269(6):1665-70. doi: 10.1007/s00405-011-1806-5. Epub 2011 Oct 22.
We aimed to characterize somatic mutations in the D-loop of mitochondrial DNA (mtDNA) and their impact on survival in oral squamous cell carcinoma patients in an endemic betel quid chewing area. Histologically confirmed oral cancer and corresponding non-tumor tissues were obtained from 59 patients. The D-loop of mtDNA sequence in a patient's non-cancerous tissues was compared with that of paired oral cancer samples and any sequence differences were identified as somatic mutations. With a median follow-up of 16 months, somatic mutations of the D-loop were observed in 38 (64.4%) patients and most of them occurred in the poly-C tract. There was no significant difference between the mutation group and non-mutation group in age, gender, primary site, histological features, pathological stage, smoking, betel quid chewing, alcohol consumption, and postoperative radiotherapy. However, patients with D-loop mutations have better survival (2 year disease specific survival rate: 73.4 vs. 45.0%, P = 0.0374). A high rate of somatic mutations in the D-loop region of mtDNA was found in betel quid-related oral squamous cell carcinoma patients. Somatic mutation of D-loop of mtDNA was associated with better survival.
我们旨在描述线粒体 DNA（mtDNA）D 环中的体细胞突变及其对咀嚼槟榔流行地区口腔鳞状细胞癌患者生存的影响。从 59 名患者中获得了组织学证实的口腔癌和相应的非肿瘤组织。将患者非癌组织中的 mtDNA D 环序列与配对的口腔癌样本进行比较，并确定任何序列差异为体细胞突变。中位随访 16 个月后，38 名（64.4%）患者观察到 D 环的体细胞突变，其中大多数发生在多-C 区。突变组和非突变组在年龄、性别、原发部位、组织学特征、病理分期、吸烟、咀嚼槟榔、饮酒和术后放疗方面无显著差异。然而，D 环突变患者的生存情况更好（2 年疾病特异性生存率：73.4% vs. 45.0%，P=0.0374）。在与咀嚼槟榔相关的口腔鳞状细胞癌患者中发现 mtDNA D 环区域存在高频率的体细胞突变。mtDNA D 环的体细胞突变与更好的生存相关。
