Multifocal anaplastic astrocytoma in a patient with hereditary colorectal cancer, transcobalamin II deficiency, agenesis of the corpus callosum, mental retardation, and inherited PMS2 mutation.

Journal Article (Journal Article)

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.

Full Text

Duke Authors

Cited Authors

  • Gururangan, S; Frankel, W; Broaddus, R; Clendenning, M; Senter, L; McDonald, M; Eastwood, J; Reardon, D; Vredenburgh, J; Quinn, J; Friedman, HS

Published Date

  • February 2008

Published In

Volume / Issue

  • 10 / 1

Start / End Page

  • 93 - 97

PubMed ID

  • 17993636

Pubmed Central ID

  • PMC2600843

International Standard Serial Number (ISSN)

  • 1522-8517

Digital Object Identifier (DOI)

  • 10.1215/15228517-2007-037


  • eng

Conference Location

  • England