| Multiple colon carcinomas in a patient with Cowden syndrome. | |
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MedLine Citation:
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PMID: 16964417 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Cowden syndrome is a non-adenomatous gastrointestinal polyposis syndrome with inactivation of PTEN, a dual-phosphatase tumor suppressor gene. Patients with loss of wildtype PTEN expression from one allele carry an increased risk of malignant breast, thyroid and brain tumors. However, the risk of malignant transformation in gastrointestinal polyps is still unclear. In this study, we describe a kindred with Cowden syndrome and identify a heterozygous germline mutation causing truncation of the PTEN tumor suppressor. The index patient was a 56 year-old woman having multiple facial papules, acral keratosis, oral papillomatosis, multiple benign breast and thyroid tumors and gastrointestinal polyposis. Progression to invasive adenocarcinoma occured in two pre-existing hamartomatous polyps. Analysis of one of the carcinomas revealed somatic inactivation of the wildtype PTEN allele by exon-skipping. This case demonstrates that gastrointestinal hamartomas in Cowden syndrome patients can progress to invasive adenocarcinomas and should therefore be carefully monitored. |
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Authors:
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Anja-Katrin Bosserhoff; Elke-Ingrid Grussendorf-Conen; Albert Rübben; Sabine Rudnik-Schöneborn; Klaus Zerres; Reinhard Buettner; Sabine Merkelbach-Bruse |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: International journal of molecular medicine Volume: 18 ISSN: 1107-3756 ISO Abbreviation: Int. J. Mol. Med. Publication Date: 2006 Oct |
Date Detail:
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Created Date: 2006-09-11 Completed Date: 2006-11-28 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9810955 Medline TA: Int J Mol Med Country: Greece |
Other Details:
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Languages: eng Pagination: 643-7 Citation Subset: IM |
Affiliation:
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Institute of Pathology, University of Regensburg, 93053 Regensburg, Germany. anja.bosserhoff@klinik.uni-regensburg.de |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Base Sequence Blotting, Western Breast Neoplasms / complications, pathology Codon, Nonsense / genetics Colonic Neoplasms / complications, pathology* DNA Mutational Analysis Family Health Female Gene Expression / genetics Hamartoma Syndrome, Multiple / complications, genetics, pathology* Humans Male Middle Aged PTEN Phosphohydrolase / genetics, metabolism Pedigree RNA, Messenger / genetics, metabolism Reverse Transcriptase Polymerase Chain Reaction Thyroid Neoplasms / complications, pathology |
| Chemical | |
Reg. No./Substance:
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0/Codon, Nonsense; 0/RNA, Messenger; EC 3.1.3.67/PTEN Phosphohydrolase |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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