Cowden syndrome: Report of a case with immunohistochemical analysis and review of the literature
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...
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| Veröffentlicht in: | Oral surgery, oral medicine, oral pathology, oral radiology and endodontics oral medicine, oral pathology, oral radiology and endodontics, 2006-05, Vol.101 (5), p.625-631 |
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| container_title | Oral surgery, oral medicine, oral pathology, oral radiology and endodontics |
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| creator | Scheper, Mark A. Nikitakis, Nikolaos G. Sarlani, Eleni Sauk, John J. Meiller, Timothy F. |
| description | 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. |
| doi_str_mv | 10.1016/j.tripleo.2005.06.026 |
| format | Article |
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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.</description><identifier>ISSN: 1079-2104</identifier><identifier>EISSN: 1528-395X</identifier><identifier>DOI: 10.1016/j.tripleo.2005.06.026</identifier><identifier>PMID: 16632275</identifier><language>eng</language><publisher>St. Louis, MO: Mosby, Inc</publisher><subject>Anti-Inflammatory Agents, Non-Steroidal - pharmacology ; Biological and medical sciences ; Dentistry ; Female ; Gene Expression - drug effects ; Gene Expression Regulation, Enzymologic ; Germ-Line Mutation ; Hamartoma Syndrome, Multiple - enzymology ; Hamartoma Syndrome, Multiple - genetics ; Hamartoma Syndrome, Multiple - pathology ; Humans ; Immunoenzyme Techniques ; Medical sciences ; Middle Aged ; Mouth Mucosa - chemistry ; Mouth Mucosa - enzymology ; Mouth Mucosa - pathology ; Otorhinolaryngology. 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| source | MEDLINE; Elsevier ScienceDirect Journals |
| subjects | Anti-Inflammatory Agents, Non-Steroidal - pharmacology Biological and medical sciences Dentistry Female Gene Expression - drug effects Gene Expression Regulation, Enzymologic Germ-Line Mutation Hamartoma Syndrome, Multiple - enzymology Hamartoma Syndrome, Multiple - genetics Hamartoma Syndrome, Multiple - pathology Humans Immunoenzyme Techniques Medical sciences Middle Aged Mouth Mucosa - chemistry Mouth Mucosa - enzymology Mouth Mucosa - pathology Otorhinolaryngology. Stomatology Proto-Oncogene Proteins c-akt - analysis PTEN Phosphohydrolase - analysis PTEN Phosphohydrolase - genetics Skin Diseases - enzymology Skin Diseases - pathology Tongue Diseases - enzymology Tongue Diseases - pathology |
| title | Cowden syndrome: Report of a case with immunohistochemical analysis and review of the literature |
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