title: Multiple primary malignancies and subtle mucocutaneous lesions associated with a novel PTEN gene mutation in a patient with Cowden syndrome: case report.
abstract: 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.
  
  
  METHODS
  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).
  
  
  CONCLUSIONS
  This case demonstrates that Cowden syndrome is a multi-system disease that can result in the development of multiple malignant and benign tumors.
authors.affiliation: Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic. pevas78@hotmail.com
authors.forename: Peter
authors.initials: P
authors.lastname: Vasovčák
authors.forename: Mária
authors.initials: M
authors.lastname: Senkeříková
authors.forename: Jana
authors.initials: J
authors.lastname: Hatlová
authors.forename: Anna
authors.initials: A
authors.lastname: Křepelová
mesh_terms: D018389:Codon, Nonsense; D003110:Colonic Neoplasms / Q000235:genetics; D017809:Fatal Outcome; D005260:Female; D016368:Frameshift Mutation; D018095:Germ-Line Mutation; D006223:Hamartoma Syndrome, Multiple / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008577:Meningeal Neoplasms / Q000235:genetics; D008579:Meningioma / Q000235:genetics; D008875:Middle Aged; D009378:Neoplasms, Multiple Primary / Q000235:genetics*; D010051:Ovarian Neoplasms / Q000235:genetics; D051059:PTEN Phosphohydrolase / Q000235:genetics*; D017384:Sequence Deletion; D013274:Stomach Neoplasms / Q000235:genetics; D013964:Thyroid Neoplasms / Q000235:genetics
chemical_list: D018389:Codon, Nonsense; D051059:PTEN Phosphohydrolase; C494929:PTEN protein, human