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Here we report a case of CMMRD with compound heterozygous variants in the <jats:italic>MSH6<\/jats:italic> gene, including a de novo variant in multiple colorectal cancers.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Case presentation<\/jats:title>\n                <jats:p>An 11-year-old girl, who presented with multiple spots resembling caf\u00e9-au-lait macules since birth, developed abdominal pain, diarrhea and bloody stool over two months. Colonoscopy revealed multiple colonic polyps, including a large epithelial tumor, and pathological examination revealed tubular adenocarcinoma. Brain magnetic resonance imaging (MRI) showed an unidentified bright object (UBO), commonly seen in neurofibromatosis type 1 (NF1). Genetic testing revealed compound heterozygous variants, c. [2969T\u2009&gt;\u2009A (p.Leu990<jats:underline>*<\/jats:underline>)] and [3064G\u2009&gt;\u2009T (p.Glu1022*)] in the <jats:italic>MSH6<\/jats:italic> gene; c.2969T\u2009&gt;\u2009A (p.Leu990<jats:underline>*<\/jats:underline>) was identified as a de novo variant.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>We present the first report of a CMMRD patient with a de novo variant in <jats:italic>MSH6<\/jats:italic>, who developed colorectal cancer in childhood. CMMRD symptoms often resemble NF1, as observed here. Physicians should become familiar with CMMRD clinical phenotypes for the screening and early detection of cancer.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s12876-021-01646-3","type":"journal-article","created":{"date-parts":[[2021,2,11]],"date-time":"2021-02-11T08:48:44Z","timestamp":1613033324000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Constitutional mismatch repair deficiency in childhood colorectal cancer harboring a de novo variant in the MSH6 gene: a case report"],"prefix":"10.1186","volume":"21","author":[{"given":"Keinosuke","family":"Hizuka","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2713-1329","authenticated-orcid":false,"given":"Shin-ichiro","family":"Hagiwara","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takatoshi","family":"Maeyama","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hitoshi","family":"Honma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masanobu","family":"Kawai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kiwamu","family":"Akagi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michiko","family":"Yasuhara","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naohiro","family":"Tomita","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuri","family":"Etani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,2,10]]},"reference":[{"key":"1646_CR1","doi-asserted-by":"publisher","first-page":"134","DOI":"10.1111\/cge.13053","volume":"93","author":"M Suerink","year":"2018","unstructured":"Suerink M, Potjer TP, Versluijs AB, Ten Broeke SW, Tops CM, Wimmer K, Nielsen M, et al. 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The consent document is available for editorial review.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"None of the authors declare any conflict of interest.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"60"}}