© Copyright 2007 by the Society for Neuro-Oncology
Received November 16, 2006
Multifocal anaplastic astrocytoma in a patient with hereditary colorectal cancer, transcobalamin II deficiency, agenesis of the corpus callosum, mental retardation, and inherited PMS2 mutation
Sridharan Gururangan 1*,
Wendy Frankel 2,
Russell Broaddus 3,
Mark Clendenning 4,
Leigha Senter 4,
Marie McDonald 5,
James Eastwood 6,
David Reardon 1,
James Vredenburgh 7,
Jennifer Quinn 8,
Henry S. Friedman 1
1 The Preston Robert Tisch Brain Tumor Center and Departments of Pediatrics and Surgery, Duke University Medical Center, Durham, NC, USA
2 Department of Pathology, Ohio State University, Columbus, OH, USA
3 Department of Pathology, The University of Texas M. D. Anderson Cancer Center, Houston, TX, USA
4 Department of Clinical Cancer Genetics, Ohio State University, Columbus, OH, USA
5 Department of Genetics, Duke University Medical Center, Durham, NC, USA
6 Department of Neuro-radiology, Duke University Medical Center, Durham, NC, USA
7 The Preston Robert Tisch Brain Tumor Center and Department of Medicine, Duke University Medical Center, Durham, NC, USA
8 The Preston Robert Tisch Brain Tumor Center and Department of Neurology, Duke University Medical Center, Durham, NC, USA
* To whom correspondence should be addressed. E-mail: gurur002{at}mc.duke.edu.
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Abstract |
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We describe the case of a patient with transcobalamin II deficiency, hypogammaglobulinemia, absent corpus callosum, and mental retardation, who presented at an early age with colorectal cancer and multifocal anaplastic astrocytoma. He was found to have a possible germline mutation of the PMS2 gene, as evidenced by absent protein expression in both normal and tumor tissues. His parents were found to be carriers of a nonsense mutation of the PMS2 gene.
Key Words:
Lynch syndrome, malignant glioma, PMS2
