Document Detail

Identifying Muir-Torre syndrome in a patient with glioblastoma multiforme.
MedLine Citation:
PMID:  19028998     Owner:  NLM     Status:  MEDLINE    
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.
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:
Type:  Case Reports; Journal Article     Date:  2008-11-21
Journal Detail:
Title:  Neuro-oncology     Volume:  11     ISSN:  1522-8517     ISO Abbreviation:  Neuro-oncology     Publication Date:  2009 Aug 
Date Detail:
Created Date:  2009-08-07     Completed Date:  2009-09-10     Revised Date:  2010-09-22    
Medline Journal Info:
Nlm Unique ID:  100887420     Medline TA:  Neuro Oncol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  452-5     Citation Subset:  IM    
University of Pittsburgh Cancer Institute, UPMC Cancer Pavilion, 5th floor, 5150 Centre Ave., Pittsburgh, PA 15232, USA.
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MeSH Terms
Adaptor Proteins, Signal Transducing / genetics
Diagnosis, Differential
Glioblastoma / diagnosis*,  genetics
Magnetic Resonance Imaging
Middle Aged
Muir-Torre Syndrome / diagnosis*,  genetics
MutS Homolog 2 Protein / genetics
Nuclear Proteins / genetics
Reg. No./Substance:
0/Adaptor Proteins, Signal Transducing; 0/MLH1 protein, human; 0/Nuclear Proteins; EC protein, human; EC Homolog 2 Protein

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