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

Neuro Oncol. 2008 Feb;10(1):93-7. doi: 10.1215/15228517-2007-037. Epub 2007 Nov 9.

Abstract

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.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology
  • Adenosine Triphosphatases / genetics*
  • Adolescent
  • Adult
  • Astrocytoma / genetics*
  • Astrocytoma / pathology
  • Brain / pathology
  • Child
  • Child, Preschool
  • Colon / pathology
  • Colorectal Neoplasms, Hereditary Nonpolyposis / genetics*
  • Colorectal Neoplasms, Hereditary Nonpolyposis / pathology
  • Corpus Callosum / pathology
  • DNA Mutational Analysis
  • DNA Repair Enzymes / genetics*
  • DNA-Binding Proteins / genetics*
  • Humans
  • Immunohistochemistry
  • Intellectual Disability / genetics
  • Intellectual Disability / pathology
  • Male
  • Mismatch Repair Endonuclease PMS2
  • Mutation
  • Pedigree
  • Polymorphism, Single Nucleotide
  • Transcobalamins / deficiency

Substances

  • DNA-Binding Proteins
  • Transcobalamins
  • Adenosine Triphosphatases
  • PMS2 protein, human
  • Mismatch Repair Endonuclease PMS2
  • DNA Repair Enzymes