Division of Gastroenterology, Massachusetts General Hospital, Boston, Massachusetts 02114, United States.
Center for Cancer Risk Assessment, Massachusetts General Hospital, Boston, Massachusetts 02114, United States.
World J Gastroenterol. 2022 Dec 28;28(48):6950-6961. doi: 10.3748/wjg.v28.i48.6950.
Colonic adenomatous polyposis of unknown etiology (CPUE) is an adenomatous polyposis phenotype that resembles Familial Adenomatous Polyposis (FAP) even though no germline pathogenic variant is identified.
We sought to better characterize the clinical features and outcomes in a cohort of CPUE patients.
This is a retrospective case series of patients 18 years old or older with aden-omatous oligopolyposis (between 10-100 adenomas) and negative genetic testing, identified through the Hereditary Gastrointestinal Cancer Database at Massachusetts General Hospital, a tertiary academic referral center. A retrospective chart review was performed with a focus on demographics, alcohol and tobacco use, medication use, familial malignancy and polyp burden, genetic testing information, endoscopic surveillance data including the corresponding histopathology, colonic and extracolonic malignancies, mortality events, and their etiology. Spearman correlation and Pearson Chi-square test (or Fisher's exact test) were used for continuous and categorical variables respectively.
CPUE patients were primarily male (69%) and presented for genetic counseling at 63.7 years. Only 2 patients (2.9%) reported a first-degree relative with polyposis. During an average surveillance period of 12.3 years, 0.5 colonoscopies year were performed. Patients developed 2.3 new adenomas year. 4 (5.7%) were diagnosed with colorectal cancer (CRC) at a mean age of 66 years, and 3 were diagnosed prior to the onset of oligopolyposis. 7 (10%) required colectomy due to advanced dysplasia or polyp burden. With respect to upper gastrointestinal manifestations, 1 patient had a gastric adenoma, but there were no cases of gastric or small bowel polyposis. During surveillance, 10 (14%) patients died at a mean age of 72, and none were due to CRC.
CPUE is distinct from familial adenomatous polyposis (FAP) syndrome and the use of FAP surveillance guidelines may result in unnecessarily frequent upper and lower endoscopies.
病因不明的结肠腺瘤性息肉病（CPUE）是一种腺瘤性息肉病表型，即使未发现种系致病性变异，也类似于家族性腺瘤性息肉病（FAP）。
我们旨在更好地描述一组 CPUE 患者的临床特征和结局。
这是一项回顾性病例系列研究，纳入了年龄在 18 岁及以上、腺瘤性寡息肉病（10-100 个腺瘤）且基因检测阴性的患者，这些患者是通过马萨诸塞州综合医院遗传性胃肠道癌症数据库确定的，该数据库是一家三级学术转诊中心。对病历进行回顾性分析，重点关注人口统计学、酒精和烟草使用、药物使用、家族性恶性肿瘤和息肉负担、基因检测信息、内镜监测数据（包括相应的组织病理学）、结直肠和结外恶性肿瘤、死亡事件及其病因。连续变量采用 Spearman 相关分析，分类变量采用 Pearson χ²检验（或 Fisher 确切检验）。
CPUE 患者主要为男性（69%），在 63.7 岁时接受遗传咨询。仅有 2 名患者（2.9%）报告一级亲属有息肉病。在平均 12.3 年的监测期间，每年进行 0.5 次结肠镜检查。患者每年新发 2.3 个新腺瘤。4 名（5.7%）患者在 66 岁时被诊断为结直肠癌（CRC），且 3 例在寡息肉病发病前即被诊断为 CRC。7 名（10%）患者因高级别异型增生或息肉负担而接受结肠切除术。就上消化道表现而言，1 名患者有胃腺瘤，但无胃或小肠息肉病病例。在监测期间，10 名（14%）患者在平均年龄为 72 岁时死亡，且均非死于 CRC。
CPUE 与家族性腺瘤性息肉病（FAP）综合征不同，使用 FAP 监测指南可能导致不必要的频繁上下消化道内镜检查。
