鄭世平1 李居仁1 楊博勝1 林俊昌1 張源清1 蔡崇鑫1 黃敦頌1 王道遠 2 甲狀腺癌的TERT啟動子突變：癌症基因體圖譜分析及馬偕經驗 TERT promoter mutation in differentiated thyroid cancer: analysis of TCGA data and MacKay Memorial Hospital experience 鄭世平1 李居仁1 楊博勝1 林俊昌1 張源清1 蔡崇鑫1 黃敦頌1 王道遠 2 Shih-Ping Cheng1, Jie-Jen Lee1, Po-Sheng Yang1, Jiunn-Chang Lin1, Yuan-Ching Chang1, Chung-Hsin Tsai1, Tung-Sun Huang1, Tao-Yeuan Wang2 馬偕紀念醫院及馬偕醫學院 1一般外科 2病理科 Departments of 1Surgery and 2Pathology, MacKay Memorial Hospital and Mackay Medical College, Taipei, Taiwan
Cancer Discov 2016;6:584-93 Mutat Res 2017;771:15-31 Cell Mol Life Sci 2016;73:1659-70
BRAF + TERT Horm Cancer 2016;7:165-77 Endocr Connect 2017;6:R8-R17; Endocr Relat Cancer 2017;24:41-52
Propensity score matching TERT wt (n = 348) TERT mut (n = 36) P value P value after 2:1 PSM Age (y) 46 ± 15 63 ± 14 < 0.001 0.110 Size (cm) 2.8 ± 1.5 4.0 ± 1.9 0.164 ETE 26% 53% 0.429 LN mets 41% 58% 0.050 0.681 Distant mets 1% 11% 0.002 Stage 61/10/21/7% 17/11/31/42% 0.208 MACIS 5.1 ± 1.3 7.4 ± 1.8 ATA risk 41/57/2% 21/48/30% BRAF mut 57% 72% 0.060 0.283
Higher TERT expression and chromosomal abnormality
Higher all somatic and nonsynonymous mutation frequency
MacKay Memorial Hospital TERT promoter sequencing n = 97 PTC (n = 92) and FTC (n = 5) TERT promoter mutation n = 8 (8.2%) c.228C>T (n = 6) c.250C>T (n = 1) c.242CC>TT (n = 1)
TERT wt (n = 89) TERT mut (n = 8) P value PTC 84 (94%) 8 (100%) 1.000 Female 71 (80%) 0.345 Age (y) 45 (36 - 55) 61 (54 - 71) 0.001 Size (cm) 1.3 (1.0 - 1.8) 2.5 (1.5 - 3.3) 0.013 ETE 80 / 20 / 0% 50 / 13 / 38% 0.017 Multifocality 29 (33%) 2 (25%) LN mets 54 / 45 / 1% 38 / 38 / 25% 0.026 LVI 21 (24%) 5 (63%) 0.030 Distant Mets 0 (0%) 3 (38%) < 0.001 BRAF (PTC) 65 (78%) 0.380 TERT mut: 3/8 TCV-PTC, youngest 52 y, smallest size 1.2 cm