{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,30]],"date-time":"2025-11-30T13:48:36Z","timestamp":1764510516029},"reference-count":31,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2015,4,9]],"date-time":"2015-04-09T00:00:00Z","timestamp":1428537600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Br J Haematol"],"published-print":{"date-parts":[[2015,8]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Mutations in the colony\u2010stimulating factor 3 receptor (<jats:italic><jats:styled-content style=\"fixed-case\">CSF<\/jats:styled-content>3R<\/jats:italic>) and calreticulin (<jats:italic><jats:styled-content style=\"fixed-case\">CALR<\/jats:styled-content><\/jats:italic>) genes have been reported in a proportion of adults with myeloproliferative disease. However, little is known about <jats:italic><jats:styled-content style=\"fixed-case\">CSF<\/jats:styled-content>3R<\/jats:italic> or <jats:italic><jats:styled-content style=\"fixed-case\">CALR<\/jats:styled-content><\/jats:italic> mutations in paediatric myeloid disorders. We analysed <jats:italic><jats:styled-content style=\"fixed-case\">CSF<\/jats:styled-content>3R<\/jats:italic> exons 14 and 17, and <jats:italic><jats:styled-content style=\"fixed-case\">CALR<\/jats:styled-content><\/jats:italic> exon 9, using direct sequencing in samples of paediatric acute myeloid leukaemia (<jats:styled-content style=\"fixed-case\">AML<\/jats:styled-content>;<jats:italic> n<\/jats:italic>\u00a0=\u00a0521), juvenile myelomonocytic leukaemia (<jats:styled-content style=\"fixed-case\">JMML<\/jats:styled-content>;<jats:italic> n<\/jats:italic>\u00a0=\u00a040), myelodysplastic syndrome (<jats:styled-content style=\"fixed-case\">MDS<\/jats:styled-content>;<jats:italic> n<\/jats:italic>\u00a0=\u00a020) and essential thrombocythaemia (<jats:styled-content style=\"fixed-case\">ET<\/jats:styled-content>;<jats:italic> n<\/jats:italic>\u00a0=\u00a021). <jats:italic><jats:styled-content style=\"fixed-case\">CSF<\/jats:styled-content>3R<\/jats:italic> mutations were found in 10 (1\u00b792%) of 521 patients with <jats:styled-content style=\"fixed-case\">AML<\/jats:styled-content>; two in exon 14 (both missense mutations resulting in p.T618I) and eight in exon 17 (three frameshift mutations: p.S715X, p.Q774R, and p.S783Q; and five novel missense mutations: p.Q754K, p.R769H, p.L777F, p.T781I, and S795R). All of the patients with mutations in <jats:italic><jats:styled-content style=\"fixed-case\">CSF<\/jats:styled-content>3R<\/jats:italic> exon 17 had chromosomal translocations, including four with t(8;21). At the time of reporting, seven of these ten patients are alive; three have died, due to side effects of chemotherapy. No <jats:italic><jats:styled-content style=\"fixed-case\">CSF<\/jats:styled-content>3R<\/jats:italic> mutations were found in cases of <jats:styled-content style=\"fixed-case\">MDS<\/jats:styled-content>,<jats:styled-content style=\"fixed-case\"> JMML<\/jats:styled-content> or <jats:styled-content style=\"fixed-case\">ET<\/jats:styled-content>. The only mutation found in the <jats:italic><jats:styled-content style=\"fixed-case\">CALR<\/jats:styled-content><\/jats:italic> gene was a frameshift (p.L367 fs) in one <jats:styled-content style=\"fixed-case\">ET<\/jats:styled-content> patient. We discuss the potential impact of these findings for the leukaemogenesis and clinical features of paediatric myeloid disorders.<\/jats:p>","DOI":"10.1111\/bjh.13439","type":"journal-article","created":{"date-parts":[[2015,4,10]],"date-time":"2015-04-10T03:58:50Z","timestamp":1428638330000},"page":"391-397","update-policy":"http:\/\/dx.doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":18,"title":["<i><scp>CSF<\/scp>3R<\/i> and <i><scp>CALR<\/scp><\/i> mutations in paediatric myeloid disorders and the association of <i><scp>CSF<\/scp>3R<\/i> mutations with translocations, including t(8; 21)"],"prefix":"10.1111","volume":"170","author":[{"given":"Hitoshi","family":"Sano","sequence":"first","affiliation":[{"name":"Department of Haematology\/Oncology Gunma Children's Medical Centre Shibukawa Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kentaro","family":"Ohki","sequence":"additional","affiliation":[{"name":"Department of Haematology\/Oncology Gunma Children's Medical Centre Shibukawa Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Myoung\u2010ja","family":"Park","sequence":"additional","affiliation":[{"name":"Department of Haematology\/Oncology Gunma Children's Medical Centre Shibukawa Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Norio","family":"Shiba","sequence":"additional","affiliation":[{"name":"Department of Haematology\/Oncology Gunma Children's Medical Centre Shibukawa Japan"},{"name":"Department of Paediatrics Gunma University Graduate School of Medicine Maebashi Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yusuke","family":"Hara","sequence":"additional","affiliation":[{"name":"Department of Haematology\/Oncology Gunma Children's Medical Centre Shibukawa Japan"},{"name":"Department of Paediatrics Gunma University Graduate School of Medicine Maebashi 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