Colorectal cancer in a 9-year-old due to combined EPCAM and MSH2 germline mutations: case report of a unique genotype and immunophenotype

J Clin Pathol. 2013 Jul;66(7):631-3. doi: 10.1136/jclinpath-2012-201376. Epub 2013 Mar 1.
No abstract available

Keywords: Cancer Genetics; Carcinoma; Colorectal Cancer; Gi Neoplasms; Paediatric Pathology.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adenocarcinoma / genetics*
  • Adenocarcinoma / secondary
  • Antigens, Neoplasm / genetics*
  • Cell Adhesion Molecules / genetics*
  • Child
  • Colorectal Neoplasms, Hereditary Nonpolyposis / genetics*
  • Colorectal Neoplasms, Hereditary Nonpolyposis / pathology
  • Epithelial Cell Adhesion Molecule
  • Female
  • Genotype
  • Germ-Line Mutation*
  • Humans
  • Immunophenotyping
  • Lymph Nodes / pathology
  • Lymphatic Metastasis
  • Male
  • MutS Homolog 2 Protein / genetics*
  • Mutation, Missense
  • Pedigree
  • Risk Assessment

Substances

  • Antigens, Neoplasm
  • Cell Adhesion Molecules
  • EPCAM protein, human
  • Epithelial Cell Adhesion Molecule
  • MSH2 protein, human
  • MutS Homolog 2 Protein