Pilarski Robert
Department of Internal Medicine and Clinical Cancer Genetics Program, Comprehensive Cancer Center, James Cancer Hospital and Solove Research Institute, Ohio State University, Columbus, OH 43221, USA.
J Genet Couns. 2009 Feb;18(1):13-27. doi: 10.1007/s10897-008-9187-7. Epub 2008 Oct 30.
Cowden syndrome (CS) is a multi-system disease involving hamartomatous overgrowth of tissues of all three embryonic origins and increased risks for thyroid, breast and possibly other cancers. Benign breast, thyroid, uterine and skin lesions are also common. Approximately 80% of patients with CS have an identifiable germline mutation in the PTEN gene. The majority of the existing data on the frequencies of component clinical features have been obtained from compilations of case reports in the literature, many of which predate the establishment in 1996 of consensus diagnostic criteria. Many of these reports also suffer from ascertainment bias which emphasized the dermatologic features of the disease. This paper presents an overview of Cowden syndrome focusing on a critical evaluation of the major literature on the component cancers, benign features, and molecular findings in CS, noting the limitations of the published data.
考登综合征（CS）是一种多系统疾病，涉及所有三种胚胎起源组织的错构瘤性过度生长，以及甲状腺、乳腺和可能其他癌症的患病风险增加。乳腺、甲状腺、子宫和皮肤的良性病变也很常见。约80%的考登综合征患者在PTEN基因中存在可识别的种系突变。关于各组成临床特征频率的现有数据大多来自文献中病例报告的汇编，其中许多早于1996年共识诊断标准的制定。这些报告中的许多还存在确诊偏倚，侧重于该疾病的皮肤特征。本文概述了考登综合征，重点对关于考登综合征中各组成癌症、良性特征和分子发现的主要文献进行批判性评估，并指出已发表数据的局限性。
