Optic pathway glioma as part of a constitutional mismatch-repair deficiency syndrome in a patient meeting the criteria for neurofibromatosis type 1

Pediatr Blood Cancer. 2013 Jan;60(1):137-9. doi: 10.1002/pbc.24254. Epub 2012 Jul 27.


Patients with constitutional mismatch repair-deficiency (CMMR-D) caused by the biallelic deletions of mismatch repair (MMR) genes have a high likelihood of developing malignancies of the bone marrow, bowel, and brain. Affected individuals often have phenotypic features of neurofibromatosis type 1 (NF-1), including café-au-lait spots. Optic pathway gliomas (OPGs), a common manifestation of NF-1, have not been reported. We report the case of a 3-year-old male with an extensive OPG who met the diagnostic criteria for NF-1. He was subsequently found to have multiple colonic polyps and bi-allelic loss of PMS2. Testing for NF-1 was negative.

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • DNA Mismatch Repair / genetics*
  • DNA Repair-Deficiency Disorders / genetics*
  • Humans
  • Male
  • Neurofibromatosis 1 / genetics*
  • Optic Nerve Glioma / genetics*