Document Detail

Cowden syndrome: report of a case with immunohistochemical analysis and review of the literature.
MedLine Citation:
PMID:  16632275     Owner:  NLM     Status:  MEDLINE    
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.
Mark A Scheper; Nikolaos G Nikitakis; Eleni Sarlani; John J Sauk; Timothy F Meiller
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Publication Detail:
Type:  Case Reports; Journal Article; Review     Date:  2006-01-10
Journal Detail:
Title:  Oral surgery, oral medicine, oral pathology, oral radiology, and endodontics     Volume:  101     ISSN:  1528-395X     ISO Abbreviation:  Oral Surg Oral Med Oral Pathol Oral Radiol Endod     Publication Date:  2006 May 
Date Detail:
Created Date:  2006-04-24     Completed Date:  2006-05-09     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  9508562     Medline TA:  Oral Surg Oral Med Oral Pathol Oral Radiol Endod     Country:  United States    
Other Details:
Languages:  eng     Pagination:  625-31     Citation Subset:  D; IM    
Department of Diagnostic Sciences and Pathology, Dental School, University of Maryland, Baltimore, MD 21201, USA.
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MeSH Terms
Anti-Inflammatory Agents, Non-Steroidal / pharmacology
Gene Expression / drug effects
Gene Expression Regulation, Enzymologic
Germ-Line Mutation
Hamartoma Syndrome, Multiple / enzymology,  genetics,  pathology*
Immunoenzyme Techniques
Middle Aged
Mouth Mucosa / chemistry,  enzymology,  pathology*
PTEN Phosphohydrolase / analysis,  genetics
Proto-Oncogene Proteins c-akt / analysis
Skin Diseases / enzymology,  pathology*
Tongue Diseases / enzymology,  pathology*
Reg. No./Substance:
0/Anti-Inflammatory Agents, Non-Steroidal; EC Proteins c-akt; EC protein, human; EC Phosphohydrolase

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