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Affected individuals often have phenotypic features of neurofibromatosis type 1 (NF\u20101), including caf\u00e9\u2010au\u2010lait spots. Optic pathway gliomas (OPGs), a common manifestation of NF\u20101, have not been reported. We report the case of a 3\u2010year\u2010old male with an extensive OPG who met the diagnostic criteria for NF\u20101. He was subsequently found to have multiple colonic polyps and bi\u2010allelic loss of <jats:italic>PMS2<\/jats:italic>. Testing for NF\u20101 was negative. Pediatr Blood Cancer 2013; 60: 137\u2013139. \u00a9 2012 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/pbc.24254","type":"journal-article","created":{"date-parts":[[2012,7,28]],"date-time":"2012-07-28T07:22:31Z","timestamp":1343460151000},"page":"137-139","source":"Crossref","is-referenced-by-count":16,"title":["Optic pathway glioma as part of a constitutional mismatch\u2010repair deficiency syndrome in a patient meeting the criteria for neurofibromatosis type 1"],"prefix":"10.1002","volume":"60","author":[{"given":"Jacky T.","family":"Yeung","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ian F.","family":"Pollack","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sapana","family":"Shah","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ronald","family":"Jaffe","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marina","family":"Nikiforova","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Regina I.","family":"Jakacki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2012,7,27]]},"reference":[{"key":"e_1_2_4_2_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-008-0542-4"},{"key":"e_1_2_4_3_2","first-page":"294","article-title":"Constitutional mismatch repair\u2010deficiency syndrome presenting as colonic adenomatous polyposis: Clues from the skin","volume":"80","author":"Jasperson K","year":"2010","journal-title":"Clin Genet"},{"key":"e_1_2_4_4_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra012242"},{"key":"e_1_2_4_5_2","doi-asserted-by":"publisher","DOI":"10.1136\/gut.50.3.382"},{"key":"e_1_2_4_6_2","first-page":"172","article-title":"Consensus development conference statement: Neurofibromatosis. 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