Colonic Polyposis and Neoplasia in Cowden Syndrome
Colonic Polyposis and Neoplasia in Cowden Syndrome
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DOI：
10.4065/mcp.2010.0816
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发表时间：
2011-06-01
影响因子：
8.9
通讯作者：
Patnaik, Mrinal M.
中科院分区：
文献类型：
--
作者：
Stanich, Peter P.;Owens, Victoria L.;Patnaik, Mrinal M.
目的：鉴定和描述与PTEN基因突变相关的罕见家族性错构瘤综合征Cowden综合征中结肠息肉和肿瘤的发生率、组织学特征和临床转归。结果：从1994年到2009年，13名患者符合研究纳入标准。在接受结肠镜检查的10例患者中，9例(90%，95%可信区间，57%-100%)有息肉，7例(70%，95%可信区间，39%-90%)息肉超过50例。本文回顾了11例结肠的病理表现，肿瘤包括错构瘤、炎性、腺瘤、神经节神经瘤、增生性息肉和幼年性息肉。在13例患者中，2例(15%；95%可信区间，3%-43%)为左侧腺癌，无微卫星不稳定性。13例患者中5例(38%)因息肉不典型继发行结肠切除术。结论：考登综合征患者结肠息肉负担重，病理范围广，包括良性和恶性。结肠息肉病导致一种以前没有报道的发病率，具有很高的结肠切除率。
OBJECTIVE: To identify and describe the frequency, histologic features, and clinical outcome of colon polyposis and neoplasia in Cowden syndrome-a rare familial hamartoma tumor syndrome associated with mutations in the PTEN gene.PATIENTS AND METHODS: Patients with a clinical diagnosis of PTEN hamartoma tumor syndrome-Cowden phenotype were retrospectively identified and studied. Only those who underwent colonoscopy or colon pathologic interpretation were included in the final analysis.RESULTS: From 1994 to 2009, 13 patients met study inclusion criteria. Of the 10 patients who underwent colonoscopy, 9 (90%; 95% confidence interval [CI], 57%-100%) had polyps, and 7 (70%; 95% CI, 39%-90%) were estimated to have more than 50 polyps. Pathologic findings of the colon were reviewed in 11 patients, and the spectrum of tumors included hamartomatous, inflammatory, adenomatous, ganglioneuromatous, hyperplastic, and Juvenile polyps. Of the 13 patients, 2 (15%; 95% CI, 3%-43%) had left-sided adenocarcinoma without microsatellite instability. Five (38%) of the 13 patients underwent colectomy secondary to polyp dysplasia.CONCLUSION: Patients with Cowden syndrome have a heavy colon polyp burden with a wide pathologic spectrum, both benign and malignant. The colon polyposis results in a previously unreported morbidity with a high colectomy rate.