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Individuals with <jats:styled-content style=\"fixed-case\">CMMRD<\/jats:styled-content> have high risk to develop a broad spectrum of malignancies and frequently display features reminiscent of neurofibromatosis type 1 (<jats:styled-content style=\"fixed-case\">NF1<\/jats:styled-content>). Evaluation of the clinical findings of genetically proven <jats:styled-content style=\"fixed-case\">CMMRD<\/jats:styled-content> patients shows that not only multiple caf\u00e9\u2010au\u2010lait macules but also any of the diagnostic features of <jats:styled-content style=\"fixed-case\">NF1<\/jats:styled-content> may be present in a <jats:styled-content style=\"fixed-case\">CMMRD<\/jats:styled-content> patient. This phenotypic overlap may lead to misdiagnosis of <jats:styled-content style=\"fixed-case\">CMMRD<\/jats:styled-content> patients as having <jats:styled-content style=\"fixed-case\">NF1<\/jats:styled-content>, which impedes adequate management of the patients and their families. The spectrum of <jats:styled-content style=\"fixed-case\">CMMRD<\/jats:styled-content>\u2010associated childhood malignancies includes high\u2010grade glioma, acute myeloid leukaemia or rhabdomyosarcoma, also reported as associated with <jats:styled-content style=\"fixed-case\">NF1<\/jats:styled-content>. Reported associations between <jats:styled-content style=\"fixed-case\">NF1<\/jats:styled-content> and these malignancies are to a large extent based on studies that neither proved the presence of an <jats:italic><jats:styled-content style=\"fixed-case\">NF1<\/jats:styled-content><\/jats:italic> germline mutation nor ruled\u2010out <jats:styled-content style=\"fixed-case\">CMMRD<\/jats:styled-content> in the affected. Hence, these associations are challenged by our current knowledge of the phenotypic overlap between <jats:styled-content style=\"fixed-case\">NF1<\/jats:styled-content> and <jats:styled-content style=\"fixed-case\">CMMRD<\/jats:styled-content> and should be re\u2010evaluated in future studies. Recent advances in the diagnostics of <jats:styled-content style=\"fixed-case\">CMMRD<\/jats:styled-content> should render it possible to definitely state or refute this diagnosis in these individuals.<\/jats:p>","DOI":"10.1111\/cge.12904","type":"journal-article","created":{"date-parts":[[2016,10,25]],"date-time":"2016-10-25T13:12:52Z","timestamp":1477401172000},"page":"507-519","source":"Crossref","is-referenced-by-count":107,"title":["Connections between constitutional mismatch repair deficiency syndrome and neurofibromatosis type 1"],"prefix":"10.1111","volume":"91","author":[{"given":"K.","family":"Wimmer","sequence":"first","affiliation":[{"name":"Division of Human Genetics Medical University Innsbruck  Innsbruck Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T.","family":"Rosenbaum","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Sana Kliniken Duisburg, Wedau Kliniken  Duisburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Messiaen","sequence":"additional","affiliation":[{"name":"Medical Genomics Laboratory, Department of Genetics University of Alabama at Birmingham  Birmingham AL USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,1,10]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990326)89:1<1::AID-AJMG3>3.0.CO;2-8"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.105.3.608"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.2009.1663"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(90)90151-4"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/emboj\/17.15.4313"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(92)90407-4"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.20.3055"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.jid.5701095"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.5.311"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.critrevonc.2016.05.008"},{"key":"e_1_2_9_12_1","first-page":"3534","article-title":"Chronic myelomonocytic leukemia in childhood: a retrospective analysis of 110 cases. 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