© Copyright 2008 by the Society for Neuro-Oncology
Received April 9, 2008
Accepted June 30, 2008
Identifying Muir-Torre syndrome in a patient with glioblastoma multiforme
Deric M. Park 1*,
Gabrielle A. Yeaney 2,
Ronald L. Hamilton 2,
Jennifer Mabold 1,
Nikki Urban 1,
Leonard Appleman 1,
John Flickinger 1,
Frank Lieberman 1,
Arlan Mintz 1
1 University of Pittsburgh Cancer Institute, Pittsburgh, PA, USA
2 Department of Pathology, University of Pittsburgh, Pittsburgh, PA, USA
* To whom correspondence should be addressed. E-mail: parkdm{at}upmc.edu.
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Abstract |
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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.
Key Words:
Glioma, GBM, Muir-Torre Syndrome, DNA mismatch repair, Microsatellite instability
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