the Scope Extra Colonic Cancer Risks in HNPCC范围以外的额外的结肠癌风险课件.pptVIP

下载本文档

1
0
约5.72万字
约 70页
2018-06-19 发布于贵州
举报
版权申诉

the Scope Extra Colonic Cancer Risks in HNPCC范围以外的额外的结肠癌风险课件.ppt

1、有哪些信誉好的足球投注网站（book118）网站文档一经付费（服务费），不意味着购买了该文档的版权，仅供个人/单位学习、研究之用，不得用于商业用途，未经授权，严禁复制、发行、汇编、翻译或者网络传播等，侵权必究。。
2、本站所有内容均由合作方或网友上传，本站不对文档的完整性、权威性及其观点立场正确性做任何保证或承诺！文档内容仅供研究参考，付费前请自行鉴别。如您付费，意味着您自己接受本站规则且自行承担风险，本站不退款、不进行额外附加服务；查看《如何避免下载的几个坑》。如果您已付费下载过本站文档，您可以点击这里二次下载。
3、如文档侵犯商业秘密、侵犯著作权、侵犯人身权等，请点击“版权申诉”（推荐），也可以打举报电话：400-050-0827(电话支持时间：9:00-18:30)。
4、该文档为VIP文档，如果想要下载，成为VIP会员后，下载免费。
5、成为VIP后，下载本文档将扣除1次下载权益。下载后，不支持退款、换文档。如有疑问请联系我们。
6、成为VIP后，您将拥有八大权益，权益包括：VIP文档下载权益、阅读免打扰、文档格式转换、高级专利检索、专属身份标志、高级客服、多端互通、版权登记。
7、VIP文档为合作方或网友上传，每下载1次，网站将根据用户上传文档的质量评分、类型等，对文档贡献者给予高额补贴、流量扶持。如果你也想贡献VIP文档。上传文档

the Scope Extra Colonic Cancer Risks in HNPCC范围以外的额外的结肠癌风险课件

Beyond the Scope: Extra Colonic Cancer Risks in HNPCC and Screening Familial Adenomatous Polyposis In the classic form, the phenotype is not subtle! It will declare itself. 100s to 1000s of adenomatous polyps Early onset CRC Almost 100% by 40y if untreated Attenuated FAP can mimic HNPCC Smaller number of adenomatous polyps CRC risk rises sharply after 40y and 50% MSI stable FAP: Associated Cancers Duodenal cancers (seen ~20 years after onset of CRC) Thyroid cancer Childhood hepatoblastomas Gastric carcinomas Medulloblastomas FAP: Associated Findings Sebaceous or epidermoid cysts Lipomas Congenital hypertrophy of the retinal pigment epithelium (CHRPE) Desmoid tumors Mandibular ostoemas Supernumerary teeth HNPCC Fast Facts Also known as Lynch syndrome Incidence thought to be 1/740-1/1000 people HNPCC acct for 2-7% of annual worldwide incidence of colorectal cancer (18,900-63,130 cases/yr) Autosomal Dominant inheritance 40-60% of patients who meet Amsterdam criteria test positive for mutation Extra colonic cancer risks gender specific CRC risk higher in males than in females HNPCC Fast Facts High (80%) risk of colorectal cancer Mucinous (30-40%) Poorly differentiated (23-39%) Mean age of colorectal cancer diagnosis is 44y 2/3 Colon tumors right-sided Associated with microsatellite instability (MSI) Associated with improved survival rate (65% 5-yr in MLH1 vs 44% 5-yr in sporadic CRC) 25% of individuals will develop more than one tumor Review of Related Genes MLH1: (40% of cases) Also makes protein complex with PMS2 to excise mispaired DNA and resynthesize Mutation results in complete loss of function Mean age at CRC dx 42.8 yrs MSH2: (40% of cases) Deletions very common; up to 30% of all disease causing mutations are deletions Cancer rates higher than MLH1 carriers (90% to age 80y vs 85%) Mean age at CRC dx 43.9 Review of Related Genes MSH6: (10% of cases) partial mismatch repair gene Associated with atypical HNPCC families Only few of families with MSH6 meet Am