Cowden syndrome

被引:86
作者
Farooq, A. [1 ]
Walker, L. J. [2 ]
Bowling, J. [3 ]
Audisio, R. A. [1 ,4 ]
机构
[1] St Helens & Knowsley Teaching Hosp, Dept Gen Surg, Prescot L35 5DR, England
[2] Churchill Hosp, Oxford Reg Genet Ctr, Oxford OX3 7LJ, England
[3] Churchill Hosp, Dept Dermatol, Oxford OX3 7LJ, England
[4] Univ Liverpool, Liverpool L69 3BX, Merseyside, England
关键词
Cowden syndrome; Cowden disease; PTEN; MULTIPLE HAMARTOMA SYNDROME; PTEN PROMOTER MUTATIONS; SYNDROME PLEASE STAND; BREAST-CANCER; GERMLINE MUTATIONS; GLYCOGENIC ACANTHOSIS; NEOPLASIA SYNDROME; DISEASE; TUMOR; GENE;
D O I
10.1016/j.ctrv.2010.04.002
中图分类号
R73 [肿瘤学];
学科分类号
100214 ;
摘要
Cowden syndrome (CS) is a rare inherited condition characterised by multiple hamartomas in a variety of tissues from all three embryonic layers. It is a cancer predisposition syndrome with an increased risk of developing malignancy in many tissues but especially breast, thyroid and endometrium. It is inherited in an autosomal dominant manner with similar to 80% of patients having a germ-line mutation of the PTEN tumour suppressor gene. Presenting signs and symptoms are highly non-specific. Nevertheless clinicians should be able to recognise this syndrome so that patients may be screened for cancerous growths and afforded the opportunity to have genetic testing to assist them and their family members in making medical management decisions. We present a review of this unusual but important condition with particular emphasis on the diagnostic criteria, clinical features, genetics, management and surveillance. (C) 2010 Elsevier Ltd. All rights reserved.
引用
收藏
页码:577 / 583
页数:7
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