Department of Gastroenterology and Hepatology, Amsterdam UMC, University of Amsterdam Cancer Center Amsterdam, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, the Netherlands.
Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy; IRCCS Azienda Ospedaliero-Universitaria di Bologna, Policlinico di Sant'Orsola, Bologna, Italy.
Best Pract Res Clin Gastroenterol. 2022 Jun-Aug;58-59:101793. doi: 10.1016/j.bpg.2022.101793. Epub 2022 Mar 16.
Familial adenomatous polyposis (FAP) and MUTYH-associated polyposis (MAP) are rare inherited polyposis syndromes with a high colorectal cancer (CRC) risk. Therefore, frequent endoscopic surveillance including polypectomy of relevant premalignant lesions from a young age is warranted in patients. In FAP and less often in MAP, prophylactic colectomy is indicated followed by lifelong endoscopic surveillance of the retained rectum after (sub)total colectomy and ileal pouch after proctocolectomy to prevent CRC. No consensus is reached on the right type and timing of colectomy. As patients with FAP and MAP nowadays have an almost normal life-expectancy due to adequate treatment of colorectal polyposis, challenges in the management of FAP and MAP have shifted towards the treatment of duodenal and gastric adenomas as well as desmoid treatment in FAP. Whereas up until recently upper gastrointestinal surveillance was mostly diagnostic and patients were referred for surgery once duodenal or gastric polyposis was advanced, nowadays endoscopic treatment of premalignant lesions is widely performed. Aiming to reduce polyp burden in the colorectum as well as in the upper gastrointestinal tract, several chemopreventive agents are currently being studied.
家族性腺瘤性息肉病(FAP)和 MUTYH 相关息肉病(MAP)是罕见的遗传性息肉病综合征,结直肠癌(CRC)风险较高。因此,患者需要进行频繁的内镜监测,包括年轻时切除相关的癌前病变。在 FAP 中,更常见于 MAP 中,预防性结肠切除术是指征,然后在(次)全结肠切除术后和直肠乙状结肠切除术后进行保留直肠的终身内镜监测,以预防 CRC。对于 FAP 和 MAP 的最佳手术类型和时间尚未达成共识。由于对结直肠息肉病的充分治疗,现在 FAP 和 MAP 患者的预期寿命几乎正常,因此 FAP 和 MAP 的管理挑战已转向十二指肠和胃腺瘤的治疗以及 FAP 中的硬纤维瘤治疗。虽然直到最近,上消化道监测主要是诊断性的,并且一旦出现十二指肠或胃息肉进展,患者就会被转介进行手术,但现在广泛开展了对癌前病变的内镜治疗。为了减少结直肠和上消化道的息肉负担,目前正在研究几种化学预防剂。