title: Cowden syndrome: report of a case with immunohistochemical analysis and review of the literature.
abstract: Cowden syndrome is a rare condition defined by multiple hamartomatous growths and a guarded prognosis owing to the high risk of cancer development. The syndrome is inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity. The PTEN/MMAC1/TEP1 tumor suppressor gene on chromosome 10q23.3, has proven to contain a germline mutation predisposing for uncontrolled cell growth and survival via the PI3K/AKT pathway. Presented here is a case of Cowden syndrome in a patient with multiple hamartomas of the nose, midfacial skin and oral mucosa, and fissured tongue; plus a history of bipolar disease, iron deficiency anemia, basal cell carcinoma, fibroids of the uterus, and arthritis. The family history was significant for a daughter diagnosed with lung cancer. A final diagnosis of Cowden syndrome was made on the basis of established criteria and confirmed using immunohistochemistry directed against PTEN and phosphorylated-AKT.
authors.affiliation: Department of Diagnostic Sciences and Pathology, Dental School, University of Maryland, Baltimore, MD 21201, USA. mscheper@umaryland.edu
authors.forename: Mark A
authors.initials: MA
authors.lastname: Scheper
authors.forename: Nikolaos G
authors.initials: NG
authors.lastname: Nikitakis
authors.forename: Eleni
authors.initials: E
authors.lastname: Sarlani
authors.forename: John J
authors.initials: JJ
authors.lastname: Sauk
authors.forename: Timothy F
authors.initials: TF
authors.lastname: Meiller
mesh_terms: D000894:Anti-Inflammatory Agents, Non-Steroidal / Q000494:pharmacology; D005260:Female; D015870:Gene Expression / Q000187:drug effects; D015971:Gene Expression Regulation, Enzymologic; D018095:Germ-Line Mutation; D006223:Hamartoma Syndrome, Multiple / Q000201:enzymology / Q000235:genetics / Q000473:pathology*; D006801:Humans; D007124:Immunoenzyme Techniques; D008875:Middle Aged; D009061:Mouth Mucosa / Q000737:chemistry / Q000201:enzymology / Q000473:pathology*; D051059:PTEN Phosphohydrolase / Q000032:analysis / Q000235:genetics; D051057:Proto-Oncogene Proteins c-akt / Q000032:analysis; D012871:Skin Diseases / Q000201:enzymology / Q000473:pathology*; D014060:Tongue Diseases / Q000201:enzymology / Q000473:pathology*
chemical_list: D000894:Anti-Inflammatory Agents, Non-Steroidal; D051057:Proto-Oncogene Proteins c-akt; D051059:PTEN Phosphohydrolase; C494929:PTEN protein, human