| Adenoma development in a patient with MUTYH-associated polyposis (MAP): new insights into the natural course of polyp development. | |
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MedLine Citation:
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PMID: 19672709 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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PURPOSE: Biallelic germ-line mutations in MUTYH have recently been found to predispose for MUTYH-associated polyposis (MAP). Affected patients present with a wide range of clinical phenotypes at the time of diagnosis, but there is little precise information about the natural course of this disease. RESULTS: Fourteen years of colonoscopic surveillance of an MAP patient (compound heterozygous p.Y165C/p.G382D) showed that adenoma development was slow after initial diagnosis of a single colorectal carcinoma at the age of 44, but then the annual number of new adenomas increased substantially in the patient's early fifties. CONCLUSION: This course of the disease, with a strong subsequent acceleration of polyp development, may explain the wide range of polyp numbers counted in newly diagnosed MAP patients as a result of the time of observation. Therefore, MAP should also be considered in younger patients (35-55 years) with only few adenomas or colorectal cancer. The high frequency of medium and severe dysplasia in the patient's preferential small adenomas suggests accelerated progression from adenoma to carcinoma in MAP, but this observation must be confirmed by further studies. |
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Authors:
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Markus Casper; Guido Plotz; Bernhard Juengling; Joerg Trojan; Frank Lammert; Jochen Raedle |
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Publication Detail:
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Type: Case Reports; Journal Article Date: 2009-08-12 |
Journal Detail:
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Title: Digestive diseases and sciences Volume: 55 ISSN: 1573-2568 ISO Abbreviation: Dig. Dis. Sci. Publication Date: 2010 Jun |
Date Detail:
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Created Date: 2010-06-09 Completed Date: 2010-07-07 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 7902782 Medline TA: Dig Dis Sci Country: United States |
Other Details:
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Languages: eng Pagination: 1711-5 Citation Subset: AIM; IM |
Affiliation:
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Department of Internal Medicine II, Saarland University Hospital, Kirrberger Strasse, Homburg/Saar, Germany. inmcas@uks.eu |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adenomatous Polyposis Coli
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genetics,
pathology*,
surgery Adult Colonic Polyps / genetics, pathology*, surgery Colonoscopy DNA Glycosylases / genetics* DNA Mutational Analysis Disease Progression Genetic Predisposition to Disease Heterozygote Humans Male Middle Aged Mutation Time Factors |
| Chemical | |
Reg. No./Substance:
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EC 3.2.2.-/DNA Glycosylases; EC 3.2.2.-/mutY adenine glycosylase |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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