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Case Studies/Case Illustration |
The Preston Robert Tisch Brain Tumor Center (S.G., D.R., J.V., J.Q., H.S.F.) and Departments of Pediatrics (S.G., D.R., H.S.F.), Surgery (S.G., D.R., H.S.F), Medicine (J.V.), Neurology (J.Q.), Genetics (M.M.), and Neuro-radiology (J.E.), Duke University Medical Center, Durham, NC; Department of Pathology (R.B.), The University of Texas M. D. Anderson Cancer Center, Houston, TX; and Departments of Pathology (W.F.) and Clinical Cancer Genetics (M.C., L.S.), Ohio State University, Columbus, OH; USA
Address correspondence to Sridharan Gururangan, MRCP (UK), The Preston Robert Tisch Brain Tumor Center at Duke, Duke University Medical Center, Box 3624, DUMC, Durham, NC 27710, USA (gurur002{at}mc.duke.edu).
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 germ line 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
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