Multiple primary malignancies and subtle mucocutaneous lesions associated with a novel PTEN gene mutation in a patient with Cowden syndrome: Case report

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• 作者：Peter Vasov?ák (1)
  Mária ?enke?íková (2)
  Jana Hatlová (3)
  Anna K?epelová (1)
  
• 刊名：BMC Medical Genetics
• 出版年：2011
• 出版时间：December 2011
• 年：2011
• 卷：12
• 期：1
• 全文大小：514KB
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  29. The pre-publication history for this paper can be accessed here:http://www.biomedcentral.com/1471-2350/12/38/prepub
  
• 作者单位：Peter Vasov?ák (1)
  Mária ?enke?íková (2)
  Jana Hatlová (3)
  Anna K?epelová (1)
  
  1. Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic
  2. Department of Medical Genetics, University Hospital, Hradec Králové, Czech Republic
  3. Fingerland’s Department of Pathology, Faculty of Medicine, Hradec Králové, Czech Republic
  
• ISSN：1471-2350

文摘

Background Cowden syndrome (CS) is a cancer predisposition syndrome associated with increased risk of breast, thyroid, and endometrial cancers, and is characterized by development of benign mucocutaneous lesions. Case presentation Here we report on a 58-year-old woman with multiple primary malignancies and subtle mucocutaneous lesions such as small polyps and wart-like papulas. Over a period of 23 years, she developed various malignant neoplasms including thyroid, ovarian, stomach, and colon carcinomas, and a benign meningioma. Direct sequencing analysis of the PTEN gene revealed a novel germline mutation (c.438delT, p.Leu146X). Conclusion This case demonstrates that Cowden syndrome is a multi-system disease that can result in the development of multiple malignant and benign tumors.