Liu Shih-An, Jiang Rong-San, Wang Wen-Yi, Lin Jin-Ching
Department of Otolaryngology, Taichung Veterans General Hospital, Taichung, Taiwan.
Faculty of Medicine, School of Medicine, National Yang-Ming University, Taipei, Taiwan.
Head Neck. 2015 Jun;37(6):878-83. doi: 10.1002/hed.23680. Epub 2014 Jun 27.
The purpose of this study was to characterize somatic mutations in the D-loop of mitochondrial DNA (mtDNA) and their impact on survival in patients with head and neck cancer.
Histologically confirmed head and neck cancer and corresponding noncancerous tissues were obtained from 130 patients. The D-loop of mtDNA sequence in noncancerous tissues was compared with that of paired cancer samples and any sequence differences were identified as somatic mutations.
Somatic mutations of the D-loop were observed in 81 patients (62.3%) with head and neck squamous cell carcinoma, and most of them occurred in the poly-C tract. There were no significant differences between the mutation group and nonmutation group in demographic and tumor-related features. Patients with D-loop mutations had better survival (4-year disease-specific survival rate: 70.5% vs 50.8%; p = .0435).
Somatic mutation of D-loop of mtDNA was a potential prognostic factor of head and neck squamous cell carcinoma.
本研究旨在描述线粒体DNA（mtDNA）D环区的体细胞突变及其对头颈癌患者生存的影响。
从130例患者中获取经组织学确诊的头颈癌及相应的非癌组织。将非癌组织中mtDNA序列的D环区与配对癌样本的D环区进行比较，任何序列差异均被鉴定为体细胞突变。
在81例（62.3%）头颈鳞状细胞癌患者中观察到D环区的体细胞突变，其中大多数发生在多聚C序列。突变组与非突变组在人口统计学和肿瘤相关特征方面无显著差异。D环区突变患者的生存率更高（4年疾病特异性生存率：70.5%对50.8%；p = 0.0435）。
mtDNA D环区的体细胞突变是头颈鳞状细胞癌的一个潜在预后因素。
