{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,21]],"date-time":"2026-05-21T00:18:44Z","timestamp":1779322724503,"version":"3.51.4"},"reference-count":48,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2021,9,30]],"date-time":"2021-09-30T00:00:00Z","timestamp":1632960000000},"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":[[2021,12]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Juvenile myelomonocytic leukaemia (JMML), a rare clonal haematopoietic disorder of childhood, is characterised as a myelodysplastic\/myeloproliferative neoplasm. Despite ground\u2010breaking genetic discoveries, JMML remains difficult to diagnose given its diverse clinical features and disease course. A total of 24 patients with JMML were diagnosed and treated at a single institution, and their genetic profiles and association with clinical and laboratory characteristics were analysed. In all, 22 of the patients received allogeneic haematopoietic stem cell transplantation after myeloablative conditioning, mostly from a haploidentical family donor. RAS pathway mutations were identified in 88% of patients: <jats:italic>PTPN11<\/jats:italic> [nine (38%)], <jats:italic>NRAS<\/jats:italic> [nine (38%)], <jats:italic>KRAS<\/jats:italic> [two (8%)], <jats:italic>NF1<\/jats:italic> [five (21%)] and <jats:italic>CBL<\/jats:italic> [one (4%)]. Secondary mutations were found in 25% of patients: <jats:italic>SETBP1<\/jats:italic>, <jats:italic>JAK3<\/jats:italic>, <jats:italic>ASXL1<\/jats:italic>, <jats:italic>GATA2<\/jats:italic>, <jats:italic>KIT<\/jats:italic>, <jats:italic>KDM6A<\/jats:italic>, and <jats:italic>BCOR<\/jats:italic>. Six patients showed cytogenetic abnormalities, including three with monosomy 7. The estimated 5\u2010year event\u2010free survival (EFS) and overall survival (\u00b1 standard error) of the entire cohort were 58\u00b79\u2009(10\u00b79)% and 73\u00b75\u2009(10\u00b78)% respectively. <jats:italic>NRAS<\/jats:italic> (+) patients had a higher 5\u2010year EFS than <jats:italic>NRAS<\/jats:italic> (\u2212) patients [72\u00b79\u2009(16\u00b75)% vs. 52\u00b75\u2009(13\u00b71)%, <jats:italic>P<\/jats:italic>\u2009=\u20090\u00b7127]. <jats:italic>NRAS<\/jats:italic> (+) patients had a better 5\u2010year EFS than <jats:italic>PTPN11<\/jats:italic> (+) patients [41\u00b77\u2009(17\u00b73)%, <jats:italic>P<\/jats:italic>\u2009=\u20090\u00b7071]. Our study revealed the genetic characteristics of Korean JMML patients with RAS pathway and secondary mutations.<\/jats:p>","DOI":"10.1111\/bjh.17861","type":"journal-article","created":{"date-parts":[[2021,9,30]],"date-time":"2021-09-30T11:47:45Z","timestamp":1633002465000},"page":"748-756","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Characteristics of RAS pathway mutations in juvenile myelomonocytic leukaemia: a single\u2010institution study from Korea"],"prefix":"10.1111","volume":"195","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8980-8177","authenticated-orcid":false,"given":"Hoon Seok","family":"Kim","sequence":"first","affiliation":[{"name":"Department of Laboratory Medicine College of Medicine Seoul St. Mary\u2019s Hospital The Catholic University of Korea Seoul Republic of Korea"},{"name":"Catholic Genetic Laboratory Center College of Medicine Seoul St. Mary\u2019s Hospital The Catholic 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Korea"},{"name":"Catholic Genetic Laboratory Center College of Medicine Seoul St. Mary\u2019s Hospital The Catholic University of Korea Seoul Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ari","family":"Ahn","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine College of Medicine Seoul St. Mary\u2019s Hospital The Catholic University of Korea Seoul Republic of Korea"},{"name":"Catholic Genetic Laboratory Center College of Medicine Seoul St. Mary\u2019s Hospital The Catholic University of Korea Seoul Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bin","family":"Cho","sequence":"additional","affiliation":[{"name":"Department of Pediatrics College of Medicine The Catholic University of Korea Seoul Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Seongkoo","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Pediatrics College of 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