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First published on November 21, 2008
This version was published on January 1, 2009
Neuro Oncol 2009 11(4):452-455; DOI:10.1215/15228517-2008-101
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Case Studies

Identifying Muir-Torre syndrome in a patient with glioblastoma multiforme

Deric M. Park, Gabrielle A. Yeaney, Ronald L. Hamilton, Jennifer Mabold, Nikki Urban, Leonard Appleman, John Flickinger, Frank Lieberman and Arlan Mintz

Department of Neurological Surgery (A.M.), University of Pittsburgh Cancer Institute (D.M.P., J.M., N.U., L.A., J.F., F.L., A.M.), Department of Pathology (G.A.Y., R.L.H.), University of Pittsburgh School of Medicine, Pittsburgh, PA, USA

Address correspondence to Deric M. Park, University of Pittsburgh Cancer Institute, UPMC Cancer Pavilion, 5th floor, 5150 Centre Ave., Pittsburgh, PA 15232, USA (parkdm{at}upmc.edu).

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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