{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T18:51:21Z","timestamp":1760986281311,"version":"3.40.5"},"reference-count":15,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2024,2,18]],"date-time":"2024-02-18T00:00:00Z","timestamp":1708214400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100021071","name":"Faculty of Medicine and Health, University of Sydney","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100021071","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["eJHaem"],"published-print":{"date-parts":[[2024,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Casitas B\u2010cell lineage (CBL) syndrome is a rare RASopathy known to predispose to CBL\u2010mutated juvenile myelomonocytic leukemia (JMML) in childhood. Adulthood acute myeloid leukemia arising out of a genetic aberrancies consistent with prior CBL\u2010mutated JMML has been twice previously described, but chronic myeloproliferative neoplasia has not. We present a case of progressive myeloproliferative neoplasm in adulthood in the context of CBL syndrome alongside a novel CSF3R variant. We also review pathogenic splice\u2010site mutations in CBL\u2010mutated JMML.<\/jats:p>","DOI":"10.1002\/jha2.864","type":"journal-article","created":{"date-parts":[[2024,2,19]],"date-time":"2024-02-19T01:30:56Z","timestamp":1708306256000},"page":"397-402","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Chronic myeloproliferative neoplasm in adulthood in CBL syndrome harboring a splice\u2010site <i>CBL<\/i> variant alongside a novel constitutional <i>CSF3R<\/i> variant"],"prefix":"10.1002","volume":"5","author":[{"ORCID":"https:\/\/orcid.org\/0009-0004-0970-1687","authenticated-orcid":false,"given":"George","family":"Mason","sequence":"first","affiliation":[{"name":"Department of Transfusion and Haematology Royal North Shore Hospital  Sydney New South Wales Australia"},{"name":"Northern Clinical School Faculty of Medicine and Health The University of Sydney  Sydney New South Wales Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rhian","family":"Aghajani","sequence":"additional","affiliation":[{"name":"Department of Transfusion and Haematology Royal North Shore Hospital  Sydney New South Wales Australia"},{"name":"Northern Clinical School Faculty of Medicine and Health The University of Sydney  Sydney New South Wales Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Brieanna","family":"Dance","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Children's Hospital at Westmead  Sydney New South Wales Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4971-3576","authenticated-orcid":false,"given":"Jad","family":"Othman","sequence":"additional","affiliation":[{"name":"Department of Transfusion and Haematology Royal North Shore Hospital  Sydney New South Wales Australia"},{"name":"Northern Clinical School Faculty of Medicine and Health The University of Sydney  Sydney New South Wales Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Linda","family":"Goodwin","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Royal North Shore Hospital  Sydney New South Wales Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"William","family":"Stevenson","sequence":"additional","affiliation":[{"name":"Department of Transfusion and Haematology Royal North Shore Hospital  Sydney New South Wales Australia"},{"name":"Northern Clinical School Faculty of Medicine and Health The University of Sydney  Sydney New South Wales Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Naomi","family":"Mackinlay","sequence":"additional","affiliation":[{"name":"Department of Transfusion and Haematology Royal North Shore Hospital  Sydney New South Wales Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,2,18]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41375-022-01613-1"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.641"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/leu.2013.203"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22809"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2017.00113"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36838"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ccr3.4260"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2020.270595"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.3389\/fonc.2014.00093"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1182\/bloodadvances.2020002013"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1186\/s40246-022-00414-y"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.onc.1203254"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-015-1550-9"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2013-10-533844"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjh.17234"}],"container-title":["eJHaem"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jha2.864","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,4,16]],"date-time":"2024-04-16T10:18:21Z","timestamp":1713262701000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jha2.864"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,2,18]]},"references-count":15,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2024,4]]}},"alternative-id":["10.1002\/jha2.864"],"URL":"https:\/\/doi.org\/10.1002\/jha2.864","archive":["Portico"],"relation":{},"ISSN":["2688-6146","2688-6146"],"issn-type":[{"type":"print","value":"2688-6146"},{"type":"electronic","value":"2688-6146"}],"subject":[],"published":{"date-parts":[[2024,2,18]]},"assertion":[{"value":"2023-11-20","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-01-19","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-02-18","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}