| Identifying Muir-Torre syndrome in a patient with glioblastoma multiforme. | |
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MedLine Citation:
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PMID: 19028998 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Patients with Muir-Torre syndrome, an autosomal-dominant familial tumor condition caused by germline mutation of the DNA mismatch repair genes, MSH2 or MLH1, present with tumors of the sebaceous gland and visceral malignancies characterized by microsatellite instability. Here we show development of glioblastoma multiforme in a patient with Muir-Torre syndrome. Immunohistochemical analysis of the brain tumor and colon cancer revealed loss of the DNA mismatch repair gene detected by the genetic test, suggesting a pathogenic link. |
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Authors:
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Deric M Park; Gabrielle A Yeaney; Ronald L Hamilton; Jennifer Mabold; Nikki Urban; Leonard Appleman; John Flickinger; Frank Lieberman; Arlan Mintz |
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Publication Detail:
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Type: Case Reports; Journal Article Date: 2008-11-21 |
Journal Detail:
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Title: Neuro-oncology Volume: 11 ISSN: 1522-8517 ISO Abbreviation: Neuro-oncology Publication Date: 2009 Aug |
Date Detail:
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Created Date: 2009-08-07 Completed Date: 2009-09-10 Revised Date: 2010-09-22 |
Medline Journal Info:
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Nlm Unique ID: 100887420 Medline TA: Neuro Oncol Country: United States |
Other Details:
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Languages: eng Pagination: 452-5 Citation Subset: IM |
Affiliation:
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University of Pittsburgh Cancer Institute, UPMC Cancer Pavilion, 5th floor, 5150 Centre Ave., Pittsburgh, PA 15232, USA. parkdm@upmc.edu |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adaptor Proteins, Signal Transducing
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genetics Diagnosis, Differential Female Glioblastoma / diagnosis*, genetics Humans Magnetic Resonance Imaging Male Middle Aged Muir-Torre Syndrome / diagnosis*, genetics MutS Homolog 2 Protein / genetics Nuclear Proteins / genetics Pedigree |
| Chemical | |
Reg. No./Substance:
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0/Adaptor Proteins, Signal Transducing; 0/MLH1 protein, human; 0/Nuclear Proteins; EC 3.6.1.3/MSH2 protein, human; EC 3.6.1.3/MutS Homolog 2 Protein |
| Comments/Corrections | |
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