Optic pathway glioma as part of a constitutional mismatch-repair deficiency syndrome in a patient meeting the criteria for neurofibromatosis type 1
Pediatric Blood & Cancer, 08/20/2012
Yeung JT et al. – 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.