PDF(Pubmed)
Abstract：
Familial adenomatous polyposis (FAP) is an autosomal dominant disease caused by pathogenic germline adenomatous polyposis coli mutation, and characterized with multiple adenomas in the colon and the rectum. Various genetic variants have been confirmed to be associated with corresponding FAP phenotypes, which play important roles in the diagnosis and surgical treatment of FAP. Generally, proctocolectomy is recommended for FAP patients at the age of 20s. Exceptionally, for patients with attenuated FAP, high-risk of desmoid, chemoprevention therapy, or other circumstances, surgery can be postponed. With the wide application of minimal invasive surgery in colorectal cancer, laparoscopic, robotic surgery, and natural orifice specimen extraction are proved to be feasible for FAP patients, but high-level evidences are needed to confirm their safety and advantages. In the times of precise medicine, the surgical management of FAP should vary with individuals based on genotype, phenotype, and clinical practice. Therefore, in addition to innovation in surgical procedures, investigation in links between genetic features and phenotypes will be helpful to optimize the surgical management of FAP in the future.
摘要：
家族性腺瘤性息肉病(FAP)是一种由致病性种系腺瘤性息肉病,结肠和直肠多发腺瘤。各种遗传变异已被证实与相应的FAP表型有关，在FAP的诊断和手术治疗中起着重要作用。一般来说,对于20岁的FAP患者，建议行结肠直肠切除术。例外地,对于FAP减弱的患者，高风险的纤维样病变，化学预防疗法,或其他情况,手术可以推迟。随着微创手术在结直肠癌中的广泛应用,腹腔镜,机器人手术,自然孔标本提取被证明对FAP患者是可行的，但是需要高水平的证据来确认它们的安全性和优势。在精准医学时代，FAP的手术管理应根据基因型因人而异，表型,和临床实践。因此,除了外科手术的创新，研究遗传特征与表型之间的联系将有助于将来优化FAP的手术管理。
