{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,30]],"date-time":"2026-10-30T12:34:23Z","timestamp":1793363663292,"version":"4.5.0"},"reference-count":7,"publisher":"American Academy of Pediatrics (AAP)","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2015,10,1]]},"abstract":"<jats:p>Colorectal carcinoma (CRC) is an extremely rare tumor of childhood that can be associated with cancer predisposition syndromes. A patient with CRC related to constitutional mismatch repair deficiency (CMMRD) syndrome with features of neurofibromatosis type 1 (NF-1) is presented here. A 13-year-old boy was admitted for a 4-month history of diarrhea and rectal bleeding. The patient had extensive caf\u00e9 au lait spots, freckling, and Lisch nodules. He fulfilled the NF-1 diagnostic criteria. Colonoscopy showed numerous polyps and a colorectal mass lesion, of which a biopsy revealed adenocarcinoma, an uncommon pathology associated with NF-1. High microsatellite instability and homozygous mutation of PMS2 gene in tumor tissue and blood lymphocytes, respectively, confirmed the diagnosis of CMMRD. Unfortunately, because family history related to CMMRD was negative, the parents denied the diagnosis and refused the therapy, and the patient was lost to follow-up. CMMRD is a rare cancer predisposition syndrome with phenotypical features resembling NF-1. The disease may be suspected in the setting of NF-1 features and CRC, high-grade brain tumors, or hematologic malignancies. Lack of family history related to CMMRD may be a major obstacle to convincing parents of the presence of an inherited disease in their progeny.<\/jats:p>","DOI":"10.1542\/peds.2015-1426","type":"journal-article","created":{"date-parts":[[2015,9,22]],"date-time":"2015-09-22T00:20:37Z","timestamp":1442881237000},"page":"e1047-e1050","source":"Crossref","is-referenced-by-count":15,"title":["Colorectal Cancer due to Constitutional Mismatch Repair Deficiency Mimicking Neurofibromatosis I"],"prefix":"10.1542","volume":"136","author":[{"given":"Nafiye","family":"Urganci","sequence":"first","affiliation":[{"name":"Sisli Hamidiye Etfal Training and Research Hospital, Istanbul, Turkey; and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dildar Bahar","family":"Genc","sequence":"additional","affiliation":[{"name":"Sisli Hamidiye Etfal Training and Research Hospital, Istanbul, Turkey; and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gulsen","family":"Kose","sequence":"additional","affiliation":[{"name":"Sisli Hamidiye Etfal Training and Research Hospital, Istanbul, Turkey; and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zerrin","family":"Onal","sequence":"additional","affiliation":[{"name":"Bakirkoy Dr. Sadi Konuk Training and Research Hospital, Istanbul, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ozge Ozdemir","family":"Vidin","sequence":"additional","affiliation":[{"name":"Sisli Hamidiye Etfal Training and Research Hospital, Istanbul, Turkey; and"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"417","published-online":{"date-parts":[[2015,10,1]]},"reference":[{"issue":"1","key":"2021120908443388200_B1","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1038\/cr.2007.115","article-title":"Mechanisms and functions of DNA mismatch repair.","volume":"18","author":"Li","year":"2008","journal-title":"Cell Res"},{"issue":"2","key":"2021120908443388200_B2","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1007\/s00439-008-0542-4","article-title":"Constitutional mismatch repair\u2013deficiency syndrome: have we so far seen only the tip of an iceberg?","volume":"124","author":"Wimmer","year":"2008","journal-title":"Hum Genet"},{"issue":"5","key":"2021120908443388200_B3","doi-asserted-by":"crossref","first-page":"987","DOI":"10.1016\/j.ejca.2013.12.005","article-title":"Genetic and clinical determinants of constitutional mismatch repair deficiency syndrome: report from the Constitutional Mismatch Repair Deficiency Consortium.","volume":"50","author":"Bakry","year":"2014","journal-title":"Eur J Cancer"},{"issue":"6","key":"2021120908443388200_B4","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1136\/jmedgenet-2014-102284","article-title":"Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium \u201cCare for CMMRD\u201d (C4CMMRD).","volume":"51","author":"Wimmer","year":"2014","journal-title":"J Med Genet"},{"issue":"5","key":"2021120908443388200_B5","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1136\/jmedgenet-2013-102238","article-title":"Guidelines for surveillance of individuals with constitutional mismatch repair-deficiency proposed by the European Consortium \u201cCare for CMMR-D\u201d (C4CMMR-D).","volume":"51","author":"Vasen","year":"2014","journal-title":"J Med Genet"},{"issue":"1","key":"2021120908443388200_B6","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1016\/j.hoc.2014.09.008","article-title":"Diagnosis and management of DNA mismatch repair-deficient colorectal cancer.","volume":"29","author":"Stadler","year":"2015","journal-title":"Hematol Oncol Clin North Am"},{"issue":"5","key":"2021120908443388200_B7","doi-asserted-by":"crossref","first-page":"1131","DOI":"10.1016\/j.pcl.2010.07.002","article-title":"The diagnostic and clinical significance of caf\u00e9-au-lait macules.","volume":"57","author":"Shah","year":"2010","journal-title":"Pediatr Clin North Am"}],"container-title":["Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/publications.aap.org\/pediatrics\/article-pdf\/136\/4\/e1047\/1060786\/peds_2015-1426.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/publications.aap.org\/pediatrics\/article-pdf\/136\/4\/e1047\/1060786\/peds_2015-1426.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,12,10]],"date-time":"2021-12-10T03:02:51Z","timestamp":1639105371000},"score":1,"resource":{"primary":{"URL":"https:\/\/publications.aap.org\/pediatrics\/article\/136\/4\/e1047\/73863\/Colorectal-Cancer-due-to-Constitutional-Mismatch"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,10,1]]},"references-count":7,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2015,10,1]]},"published-print":{"date-parts":[[2015,10,1]]}},"URL":"https:\/\/doi.org\/10.1542\/peds.2015-1426","relation":{},"ISSN":["0031-4005","1098-4275"],"issn-type":[{"value":"0031-4005","type":"print"},{"value":"1098-4275","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,10,1]]}}}