HNPCC的突变筛查.ppt

AC组15例，突变4例 如在肠外肿瘤中加入胃癌，符合30例，突变8例 检出率相同，避免遗漏 复旦推荐标准 HNPCC的突变筛查 复旦大学附属肿瘤医院 大肠外科 刘方奇 2010-4-29 Contents 1.研究背景 2.材料与方法 3.结果及讨论 研究背景 研究背景介绍 何为HNPCC？ 常染色体显性遗传病； 5-10%发生率；MMR缺陷引起 如何研究？ 临床标准；选择MLH1和MSH2基因筛查突变 研究现状 欧洲多，亚洲少 90%突变出现在MLH1和MSH2 无热点突变 研究背景介绍 临床标准 Amsterdam III；Bethesda； 数据库 最权威——InSight () 研究的意义是什么？ 遗传性疾病，早预防早治疗 中国研究较少 希望找到亚洲或中国的热点突变 为中国的临床检测提供指导 材料与方法 材料与方法 结果与讨论 结果与讨论 临床资料归纳与整理 1. 突变结果讨论 2. 临床 左半右半 64.7% vs. 35.3% 　 Amsterdam III criteria Bethesda criteria All n(%) 15(15.3%) 83(84.7%) 98(100%) Age(median, range) years 48.1(35-67) 47.6(19-82) 47.7(19-82) Sex n(%) male 12(80.0%) 45(54.2%) 57(58.2%) female 3(20.0%) 38(45.8%) 41(41.8%) Location n(%) Ascending colon 5(23.8%) 20(20.4%) 25(21.0%) Hepatic flexure 2(9.5%) 2(2.0%) 4(3.4%) Transverse colon 2(9.5%) 8(8.2%) 10(8.4%) Splenic flexure 2(9.5%) 1(1.0%) 3(2.5%) Descending colon 4(19.0%) 8(8.2%) 12(10.1%) Sigmoid colon 3(14.3%) 15(15.3%) 18(15.1%) Rectum 3(14.3%) 44(44.9%) 47(39.5%) Multiple cancer synchronous tumours 3(20.0%) 3(3.6%) 6(6.1%) metachronous tumour 4(26.7%) 17(20.5%) 21(21.4%) Pathology adenocarcinoma 13(86.7%) 69(83.1%) 82(83.7%) mucinous carcinoma 2(13.3%) 11(13.2%) 13(13.3%) Others 0(0.0%) 3(3.6%) 3(3.1%) Family history 15 51 66 同时异时肿瘤发生率高 粘液腺癌10% 31 CRC happened, 11 were left side and 20 were right (64.5% vs. 35.5%), 20 related cancers happened, most of them were gastric cancer and endometrial carcinoma, 5 each (25%). Family ID CRC number CRC frequency Cancer number Cancer frequency Male Female Onset age of CRC Onset age of cancer Multiple primary CRC Multiple primary tumors Right site Left site Extracolonic cancer (type) Mucinous carcinoma H9 4 6 4 6 3 1 48 48 2 2 5 1 0 0 H76 5 5 5 5 4 1 37 37 0 0 1 4 0 0 H86 1 2 3 5 2 1 47 47 1 1 1 1 3(1St, 1Es, 1E) 1 H88 1 1 3 3 3 0 19 19 0 0 1 0 2(2L) 0 H166 4 5 4 5 2 2 36 36 1 1 2 3 0 0 H167 4 6 5 7 3 2 29 29 2 2 1 5 1(1E) 0 H224 1 1 5 7 2 3 44 51 0 2 0 1 6(2St, 2E, 2Br) 0 H231