{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T13:31:14Z","timestamp":1753882274052,"version":"3.41.2"},"reference-count":10,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2024,9,6]],"date-time":"2024-09-06T00:00:00Z","timestamp":1725580800000},"content-version":"vor","delay-in-days":249,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003130","name":"Fonds Wetenschappelijk Onderzoek","doi-asserted-by":"publisher","award":["1SH5D24N"],"award-info":[{"award-number":["1SH5D24N"]}],"id":[{"id":"10.13039\/501100003130","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100020345","name":"Olivia Fund","doi-asserted-by":"publisher","award":["FFP240080"],"award-info":[{"award-number":["FFP240080"]}],"id":[{"id":"10.13039\/100020345","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Case Reports in Hematology"],"published-print":{"date-parts":[[2024,1]]},"abstract":"<jats:p><jats:italic>Background<\/jats:italic>. Lysine methyltransferase 2A (<jats:italic>KMT2A<\/jats:italic>) rearrangements are commonly found in juvenile acute myeloid leukaemia (AML). Although distinct diseases, there is a known clinical overlap between <jats:italic>KMT2A<\/jats:italic>\u2010rearranged AML and juvenile myelomonocytic leukaemia (JMML). Both occur in infancy or early childhood and present with abnormal monocytosis. <jats:italic>Case Report<\/jats:italic>. We report a case of a 20\u2010month\u2010old girl, who presented with lethargy, recurrent infections, bruising, and marked hepatosplenomegaly. JMML was suspected after initial work\u2010up, revealing an abnormal monocytosis without blast excess on immunophenotyping. The additional cytogenetic and molecular diagnostics, revealing a <jats:italic>KMT2A<\/jats:italic> rearrangement, was decisive for the confirmation of AML. <jats:italic>Conclusion<\/jats:italic>. This case highlights the challenges of diagnosing <jats:italic>KMT2A<\/jats:italic>\u2010rearranged monocytic AML and the importance of careful morphological assessment in partnership with cytogenetic and molecular diagnostics to distinguish between <jats:italic>KMT2A<\/jats:italic>\u2010rearranged AML and JMML. Moreover, the emerging role of molecular monitoring in AML is highlighted.<\/jats:p>","DOI":"10.1155\/2024\/7151394","type":"journal-article","created":{"date-parts":[[2024,9,6]],"date-time":"2024-09-06T14:34:10Z","timestamp":1725633250000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Pitfalls in Diagnosis: JMML versus <i>KMT2A<\/i> Rearranged Juvenile AML"],"prefix":"10.1155","volume":"2024","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1516-8626","authenticated-orcid":false,"given":"Liesbeth","family":"Vanheeswijck","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1403-3327","authenticated-orcid":false,"given":"Sanjay","family":"Tewari","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3461-2254","authenticated-orcid":false,"given":"Robin","family":"Dowse","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8256-9350","authenticated-orcid":false,"given":"Nicola","family":"Potter","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0008-1779-6021","authenticated-orcid":false,"given":"Jelena","family":"Jovanovic","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2284-4365","authenticated-orcid":false,"given":"Caroline L.","family":"Furness","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3289-4876","authenticated-orcid":false,"given":"Elsje","family":"Van Rijswijk","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,9,6]]},"reference":[{"key":"e_1_2_9_1_2","doi-asserted-by":"publisher","DOI":"10.1182\/bloodadvances.2021005117"},{"volume-title":"The 5(th) Edition of the World Health Organization Classification of Hematolymphoid Tumors","year":"2022","author":"Li W.","key":"e_1_2_9_2_2"},{"key":"e_1_2_9_3_2","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2016-03-643544"},{"volume-title":"Juvenile Myelomonocytic Leukemia (Jmml): A Mimicker of Kmt2a-Rearranged Acute Myeloid Leukemia (Aml)","year":"2020","author":"Saad A. A.","key":"e_1_2_9_4_2"},{"key":"e_1_2_9_5_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41375-022-01613-1"},{"key":"e_1_2_9_6_2","doi-asserted-by":"publisher","DOI":"10.3390\/genes12060924"},{"key":"e_1_2_9_7_2","doi-asserted-by":"publisher","DOI":"10.1007\/s12185-018-2522-3"},{"key":"e_1_2_9_8_2","doi-asserted-by":"publisher","DOI":"10.5001\/omj.2019.99"},{"key":"e_1_2_9_9_2","doi-asserted-by":"publisher","DOI":"10.1182\/bloodadvances.2021005736"},{"key":"e_1_2_9_10_2","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2022.911093"}],"container-title":["Case Reports in Hematology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1155\/2024\/7151394","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,9,6]],"date-time":"2024-09-06T14:34:18Z","timestamp":1725633258000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1155\/2024\/7151394"}},"subtitle":[],"editor":[{"given":"Stephen E.","family":"Langabeer","sequence":"additional","affiliation":[],"role":[{"role":"editor","vocabulary":"crossref"}]}],"short-title":[],"issued":{"date-parts":[[2024,1]]},"references-count":10,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2024,1]]}},"alternative-id":["10.1155\/2024\/7151394"],"URL":"https:\/\/doi.org\/10.1155\/2024\/7151394","archive":["Portico"],"relation":{},"ISSN":["2090-6560","2090-6579"],"issn-type":[{"type":"print","value":"2090-6560"},{"type":"electronic","value":"2090-6579"}],"subject":[],"published":{"date-parts":[[2024,1]]},"assertion":[{"value":"2024-04-05","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-08-02","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-09-06","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"7151394"}}