Zhang Tianqi, Xu Ye
Department of Colorectal Surgery, Fudan University Shanghai Cancer Center, Shanghai, People's Republic of China.
Clin Colon Rectal Surg. 2023 Apr 17;36(6):385-390. doi: 10.1055/s-0043-1767707. eCollection 2023 Nov.
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.
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(APC)基因突变引起的常染色体显性疾病,其特征是结肠和直肠中出现多个腺瘤。各种基因变异已被证实与相应的FAP表型相关,这在FAP的诊断和手术治疗中发挥着重要作用。一般来说,建议20多岁的FAP患者进行全结肠直肠切除术。例外情况是,对于轻度FAP患者、患硬纤维瘤风险高的患者、采用化学预防疗法的患者或其他情况的患者,手术可以推迟。随着微创手术在结直肠癌中的广泛应用,腹腔镜手术、机器人手术以及经自然腔道取标本手术已被证明对FAP患者可行,但需要高级别证据来证实其安全性和优势。在精准医学时代,FAP的手术管理应根据个体的基因型、表型和临床实践而有所不同。因此,除了手术方法的创新外,研究基因特征与表型之间的联系将有助于未来优化FAP的手术管理。