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Neuro-Oncology 2009 11(4):452-455; doi:10.1215/15228517-2008-101
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Copyright 2009 by the Society for Neuro-Oncology

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).


  Abstract

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.

Received April 9, 2008; Accepted October 27, 2008


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