Simultaneous colonic adenocarcinoma and medulloblastoma in a 12-year-old with biallelic deletions in PMS2

J Pediatr. 2013 Aug;163(2):601-3. doi: 10.1016/j.jpeds.2013.03.007. Epub 2013 Apr 10.


We describe a 12-year-old girl, simultaneously presenting with colonic adenocarcinoma and medulloblastoma from bialleic deletions in the mismatch repair gene PMS2. Her distinctive physical and clinical findings are characteristic of constitutional mismatch repair deficiency syndrome. Earlier recognition of such findings may permit better screening and more effective treatment.

Keywords: CMMR-D; Constitutional mismatch repair-deficiency; MRI; Magnetic resonance imaging.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural

MeSH terms

  • Adenocarcinoma / genetics*
  • Adenosine Triphosphatases / genetics*
  • Alleles
  • Cerebellar Neoplasms / genetics*
  • Child
  • Colonic Neoplasms / genetics*
  • DNA Repair Enzymes / genetics*
  • DNA-Binding Proteins / genetics*
  • Female
  • Gene Deletion*
  • Humans
  • Medulloblastoma / genetics*
  • Mismatch Repair Endonuclease PMS2
  • Neoplasms, Multiple Primary / genetics*


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