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HNPCC 的突变筛查

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 I&II ； Bethesda ； 数据库

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HNPCC 的突变筛查

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  1. 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

  2. Contents 1.研究背景 2.材料与方法 3.结果及讨论

  3. 研究背景

  4. 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

  5. 研究背景介绍 • 临床标准 • Amsterdam I&II；Bethesda； • 数据库 • 最权威——InSight(http://www.insight-group.org) • 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

  6. 材料与方法

  7. 材料与方法

  8. 结果与讨论

  9. 2. 临床资料归纳与整理 突变结果讨论 1. 结果与讨论

  10. 临床 左半>右半 64.7% vs. 35.3%

  11. 同时异时肿瘤发生率高 粘液腺癌>10%

  12. 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%).

  13. 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

  14. 突变 该患者同时有两个突变，且满足复旦推荐标准

  15. 四个患者突变一致——MSH2 c.1168C>T • InSight数据库中该位点报道结果——亚洲占绝大多数 • 潜在亚洲人种热点突变 or SNP

  16. 参考文献 1. Lee S-C, Guo J-Y, Lim R et al. Clinical and molecular characteristics of hereditary non-polyposis colorectal cancer families in Southeast Asia. Clinical Genetics 2005: 68: 137-145. 2. Landis SH, Murray T, Bolden S et al. Cancer statistics, 1999. CA Cancer J Clin 1999: 49: 8-31, 31. 3. Lynch HT, Smyrk T. Hereditary nonpolyposis colorectal cancer (Lynch syndrome): An updated review. Cancer 1996: 78: 1149-1167. 4. Ricciardiello L, Boland C. Lynch syndrome (hereditary non-polyposis colorectal cancer): Current concepts and approaches to management. Current Gastroenterology Reports 2005: 7: 412-420. 5. Lynch HT, Lynch JF, Lynch PM. Toward a consensus in molecular diagnosis of hereditary nonpolyposis colorectal cancer (Lynch syndrome). J Natl Cancer Inst 2007: 99: 261-263. 6. Lynch HT, de la Chapelle A. Hereditary Colorectal Cancer. The New England Journal of Medicine 2003: 348: 919-932. 7. Vasen HFA, Watson P, Mecklin J-P et al. New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative Group on HNPCC. Gastroenterology 1999: 116: 1453-1456. 8. Lynch HT, de la Chapelle A. Genetic susceptibility to non-polyposis colorectal cancer. Journal of Medical Genetics 1999: 36: 801-818. 9. Vasen HFA, Wijnen JT, Menko FH et al. Cancer risk in families with hereditary nonpolyposis colorectal cancer diagnosed by mutation analysis. Gastroenterology 1996: 110: 1020-1027. 10. Aarnio M, Mecklin J-P, Aaltonen LA et al. Life-time risk of different cancers in hereditary non-polyposis colorectal cancer (HNPCC) syndrome. International Journal of Cancer 1995: 64: 430-433. 。。。。。。

  17. Thank you！

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