Polyposis Registry, St Mark's Hospital, Harrow, UK.
Department of Surgery and Cancer, Imperial College London, London, UK.
Colorectal Dis. 2020 Oct;22(10):1271-1278. doi: 10.1111/codi.15078. Epub 2020 May 18.
The aim was to determine the presentation, management and outcomes of MUTYH-associated polyposis (MAP).
A prospectively maintained database was used to identify patients with MAP. Demographic data and data on germline mutation, surgical management, histopathology of tumours and endoscopic surveillance were collected.
In all, 134 patients with MAP were identified. The majority presented symptomatically (n = 83). Sixty-eight patients developed cancer (seven synchronous, 12 metachronous). The median age at diagnosis of first colorectal cancer was 47 years (range 33-74 years). Cancers occurred in the context of a few adenomas (< 10). The majority of patients (n = 108) had surgery as the first line management. One patient received palliative care. Twenty-five patients had endoscopic surveillance as first line management; no cancers occurred in this group. Patients who had segmental resection and postoperative surveillance still appeared to be at risk of metachronous cancer (5/30, 17%).
MUTYH testing should be considered even in the context of cancers occurring with fewer than 10 adenomas. In cases of primary colorectal cancers, extended surgery should be considered if patients do not have access to high quality endoscopic surveillance postoperatively. For some patients, endoscopic therapy is an appropriate and safe option in expert hands.
旨在确定 MUTYH 相关性息肉病（MAP）的表现、治疗方法和结局。
使用前瞻性维护的数据库来确定 MAP 患者。收集人口统计学数据以及种系突变、手术管理、肿瘤组织病理学和内镜监测的数据。
共发现 134 例 MAP 患者。大多数患者表现为有症状（n=83）。68 例患者发生癌症（7 例为同时性，12 例为异时性）。首次结直肠癌诊断的中位年龄为 47 岁（范围 33-74 岁）。癌症发生在少数腺瘤（<10 个）的背景下。大多数患者（n=108）首先进行手术治疗。1 例患者接受姑息治疗。25 例患者首先进行内镜监测；该组未发生癌症。接受节段性切除术和术后监测的患者似乎仍然存在异时性癌症的风险（5/30，17%）。
即使在少于 10 个腺瘤的情况下发生癌症，也应考虑进行 MUTYH 检测。对于原发性结直肠癌患者，如果无法进行高质量的术后内镜监测，则应考虑进行扩大手术。对于一些患者，内镜治疗在专家手中是一种合适且安全的选择。
