| First report of ovarian dysgerminoma in Cowden syndrome with germline PTEN mutation and PTEN-related 10q loss of tumor heterozygosity. | |
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MedLine Citation:
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PMID: 18594467 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We present the first report of ovarian dysgerminoma in Cowden syndrome, presenting in a 7-year-old girl. In her second decade, a hamartomatous soft tissue extremity mass and diffuse gastrointestinal hamartomatous polyposis with pathologic features suggestive of either juvenile, Peutz-Jeghers, or Cowden polyps were identified, along with diffuse esophageal glycogenic acanthosis and skin manifestations. During regular thyroid cancer surveillance under the provisional diagnosis of Cowden syndrome, papillary thyroid carcinoma and benign follicular nodules were diagnosed at age 23. PTEN mutational analysis revealed a novel germline nonsense point mutation of Q219X. Loss of PTEN heterozygosity was also present in the ovarian dysgerminoma. Parental mutation testing and phenotype screening were negative. The correct classification of Cowden syndrome is difficult because of its protean manifestations and overlapping phenotypes with other genetic and noninherited pathologies, particularly regarding various gastrointestinal polyposis syndromes. Despite the challenges, correct classification is critical to patient care because of the associated cancer predispositions and necessary surveillance programs. This is the first report of Cowden syndrome presenting with ovarian dysgerminoma, which implicates PTEN in the molecular pathogenesis of dysgerminoma and adds it to the phenotypic manifestations of Cowden syndrome. |
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Authors:
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Mee-Yon Cho; Hyun Soo Kim; Charis Eng; Dae Sung Kim; Seong Joon Kang; Minseob Eom; Sang Yeop Yi; Mary P Bronner |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: The American journal of surgical pathology Volume: 32 ISSN: 1532-0979 ISO Abbreviation: Am. J. Surg. Pathol. Publication Date: 2008 Aug |
Date Detail:
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Created Date: 2008-07-30 Completed Date: 2008-08-14 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 7707904 Medline TA: Am J Surg Pathol Country: United States |
Other Details:
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Languages: eng Pagination: 1258-64 Citation Subset: IM |
Affiliation:
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Department of Pathology, Wonju College of Medicine, Yonsei University, Wonju, Korea. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adult Child Chromosomes, Human, Pair 10* Dysgerminoma / enzymology, genetics*, pathology Female Gene Expression Regulation, Enzymologic Gene Expression Regulation, Neoplastic Genotype Germ-Line Mutation* Hamartoma Syndrome, Multiple / complications, diagnosis*, enzymology, genetics Humans Loss of Heterozygosity* Ovarian Neoplasms / enzymology, genetics*, pathology PTEN Phosphohydrolase / genetics* Phenotype |
| Chemical | |
Reg. No./Substance:
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EC 3.1.3.48/PTEN protein, human; EC 3.1.3.67/PTEN Phosphohydrolase |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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