Co-occurrence of Mitochondrial D-loop D310 and D16189 Microsatellite Instability in Patient with Esophageal Cancer
Somatic mitochondrial DNA (mtDNA) alternations such as point mutations and microsatellite instability (MSI) have been found to be associated with human cancers.We reported here clinical and molecular characterization of a Chinese patient who had a family history of esophageal cancer.Clinically,we analysis the carcinoembryonic antigen (CEA) and squamous cell carcinoma (SCC) level from peripheral blood.By molecular level,we sequenced the mitochondrial Dloop region and found the co-occurrence of homoplasmic 16189T>C and heteroplasmic 310T>C variants which located in HVR1 and HVR2,respectively,resulting mtMSI might be associated with esophageal cancer.Co-existence of two sites of mtMSI in D-loop is infrequent, suggested that defects in mitochondrial transcription may be a potential mechanism for cancer development, shad additional light on the cancer diagnosis and therapy.Taken together, our data indicated that mtMSI may be served as a biomarker in the clinical and molecular diagnosis of esophageal cancer.
mitochondrial microsatellite instability esophageal cancer D-loop
FAN FAN XiaoHong Xu YU DING
Department of Laboratory Medicine, Zhejiang Cancer Hospital;Hangzhou 310022, China Central Laboratory,Hangzhou First People” s Hospital; Hangzhou 310006, China;Affiliated Hangzhou Hos
国内会议
杭州
英文
8-11
2014-06-27（万方平台首次上网日期，不代表论文的发表时间）