• 我要登录|
  • 免费注册
    |
  • 我的丁香通
    • 企业机构:
    • 成为企业机构
    • 个人用户:
    • 个人中心
  • 移动端
    移动端
丁香通 logo丁香实验_LOGO
搜实验

    大家都在搜

      大家都在搜

        0 人通过求购买到了急需的产品
        免费发布求购
        发布求购
        点赞
        收藏
        wx-share
        分享

        Familial Adenomatous Polyposis

        互联网

        453
        Familial adenomatous polyposis (FAP) is an autosomal, dominantly inherited disorder that predisposes to the development of hundreds to thousands of adenomatous polyps throughout the colon and rectum (MIM 175100). Left untreated, it is almost 100% certain that at least one of these polyps will become malignant, usually by the time the patient is 40 yr of age (1 ). Affected patients may also develop a range of extracolonic manifestations, including benign lesions such as congenital hypertrophy of the retinal epithelium (CHRPE), jaw cysts, and sebaceous cysts as well as desmoid tumors and other malignancies including periampullary tumors, thyroid cancers, adrenocortical tumors, brain tumors, and hepatoblastomas (1 ). The colorectal features, in association with extra colonic manifestations, are also known as Gardner’s syndrome. A small proportion of patients have an attenuated form of the disease characterized by less than 100 polyps and a later age of onset, known as attenuated adenomatous polyposis coli (AAPC) (2 ). Hereditary desmoid disease is a relatively rare condition characterized by autosomal dominant inheritance of multiple desmoid tumors but with no colorectal polyposis (3 ). In general, the clinical features of the disorder allow a diagnosis of FAP to be made relatively easily. However, the attenuated form of the disease can show similarities to hereditary non-polyposis colon cancer (HNPCC), and mutation analysis of the causative genes may be required to aid in the differential diagnosis.
        ad image
        提问
        扫一扫
        丁香实验小程序二维码
        实验小助手
        丁香实验公众号二维码
        扫码领资料
        反馈
        TOP
        打开小程序