Optic pathway glioma as part of a constitutional mismatch‐repair deficiency syndrome in a patient meeting the criteria for neurofibromatosis type 11. Issue 1 (27th July 2012)

• Record Type: Journal Article
• Authors: Yeung, Jacky T.; Pollack, Ian F.; Shah, Sapana; Jaffe, Ronald; Nikiforova, Marina; Jakacki, Regina I.
• Is Part Of: Pediatric blood & cancer. Volume 60:Issue 1(2013:Jan.)
• Page Start: 137
• Page End: 139
• Publication Date: 2012-07-27
• Subjects: Tumors in children -- Periodicals; Blood -- Diseases -- Periodicals; Cancer in children -- Periodicals; 618.92
• DOI: 10.1002/pbc.24254
• Languages: English
• ISSNs: 1545-5009

Abstract

<abstract abstract-type="main" xml:lang="en"> <title>Abstract</title> <p>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 <italic>PMS2</italic>. Testing for NF‐1 was negative. Pediatr Blood Cancer 2013; 60: 137–139. © 2012 Wiley Periodicals, Inc.</p> </abstract>