Vogt Stefanie, Jones Natalie, Christian Daria, Engel Christoph, Nielsen Maartje, Kaufmann Astrid, Steinke Verena, Vasen Hans F, Propping Peter, Sampson Julian R, Hes Frederik J, Aretz Stefan
Institute of Human Genetics, University of Bonn, Bonn, Germany.
Gastroenterology. 2009 Dec;137(6):1976-85.e1-10. doi: 10.1053/j.gastro.2009.08.052. Epub 2009 Sep 2.
BACKGROUND & AIMS: MUTYH-associated polyposis (MAP) is characterized by a lifetime risk of colorectal cancer of up to 100%. However, no systematic evaluation of extracolonic manifestations has been reported.
A large cohort of MAP patients was recruited from a European multicenter study. Data were collected on 276 cases from 181 unrelated families. Information on extracolonic tumor spectrum and incidence were evaluated to determine cumulative lifetime risk, which was compared with that of the general population to obtain standardized incidence ratios (SIRs).
Duodenal polyposis occurred in 17% of cases; the relative risk (SIR) of duodenal cancer was 129 (95% confidence interval [CI]: 16-466), whereas the lifetime risk was 4%. The incidence of extraintestinal malignancies among cases was almost twice that of the general population (SIR: 1.9; 95% CI: 1.4-2.5), with a lifetime risk of 38%. We observed a significant increase in the incidence of ovarian, bladder, and skin cancers (SIR: 5.7, 7.2, and 2.8, respectively) and a trend of increased risk of breast cancer among cases. The median ages of onset of these 4 malignancies ranged from 51 to 61 years. In contrast to familial adenomatous polyposis, no desmoid tumors were observed, but sebaceous gland tumors, characteristic of the Muir-Torre variant of Lynch syndrome, occurred in 5 patients.
The relative risks for several extraintestinal malignancies increased in patients with MAP, but based on the spectrum of cancers (which overlaps with that of Lynch syndrome) and the relatively advanced age at onset, intensive surveillance measures other than frequent endoscopy are unlikely to be helpful to patients with MAP.
MUTYH相关息肉病（MAP）的特征是患结直肠癌的终生风险高达100%。然而，尚未有关于结外表现的系统评估报告。
从一项欧洲多中心研究中招募了一大群MAP患者。收集了来自181个无亲缘关系家庭的276例患者的数据。评估了结外肿瘤谱和发病率信息，以确定累积终生风险，并与普通人群的风险进行比较，以获得标准化发病率比（SIR）。
17%的病例发生十二指肠息肉病；十二指肠癌的相对风险（SIR）为129（95%置信区间[CI]：16 - 466），而终生风险为4%。病例组肠外恶性肿瘤的发病率几乎是普通人群的两倍（SIR：1.9；95%CI：1.4 - 2.5），终生风险为38%。我们观察到卵巢癌、膀胱癌和皮肤癌的发病率显著增加（SIR分别为5.7、7.2和2.8），且病例组乳腺癌风险有增加趋势。这4种恶性肿瘤的发病年龄中位数在51至61岁之间。与家族性腺瘤性息肉病不同，未观察到硬纤维瘤，但5例患者出现了Lynch综合征的Muir - Torre变异型所特有的皮脂腺肿瘤。
MAP患者几种肠外恶性肿瘤的相对风险增加，但基于癌症谱（与Lynch综合征重叠）和相对较晚的发病年龄，除频繁内镜检查外的强化监测措施对MAP患者可能无帮助。
