{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T05:48:35Z","timestamp":1772171315174,"version":"3.50.1"},"reference-count":40,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2025,2,25]],"date-time":"2025-02-25T00:00:00Z","timestamp":1740441600000},"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":["Int J Lab Hematology"],"published-print":{"date-parts":[[2025,6]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Background\/Objectives<\/jats:title><jats:p>Infant BCP\u2010ALL is classified into <jats:italic>KMT2A<\/jats:italic>\u2010r and <jats:italic>KMT2A<\/jats:italic>\u2010wt groups, both showing heterogeneity. <jats:italic>KMT2A<\/jats:italic> rearrangements indicate poor prognosis, but outcomes vary by fusion partner. The <jats:italic>KMT2A<\/jats:italic>\u2010wt group includes cases in the B\u2010other ALL subgroup, with unclear prognostic significance. We aim to improve understanding of molecular subtypes in <jats:italic>KMT2A<\/jats:italic>\u2010r and <jats:italic>KMT2A<\/jats:italic>\u2010wt, focusing on <jats:italic>NUTM1<\/jats:italic> and <jats:italic>PAX5<\/jats:italic> rearrangements.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We analyzed 175 infants (aged 0\u2013365\u2009days) diagnosed with BCP\u2010ALL from 2010 to 2023 at the Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology. Genomic aberrations were identified by karyotyping, FISH and RNA\u2010seq. RNA\u2010seq was performed using the Illumina, and gene fusions were validated by Sanger sequencing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>There was no difference in survival based on <jats:italic>KMT2A<\/jats:italic> partner genes. The <jats:italic>KMT2A::AFF1<\/jats:italic> group showed similar outcomes to other partners, with 2\u2010year EFS of 36% (95% CI, 21%\u201359%) versus 37% (95% CI, 23%\u201360%) (log\u2010rank test, <jats:italic>p<\/jats:italic>\u2009=\u20090.9). In the <jats:italic>KMT2A<\/jats:italic>\u2010wt group (<jats:italic>n<\/jats:italic>\u2009=\u200933, 17.7% of cases), <jats:italic>NUTM1\u2010r<\/jats:italic> (<jats:italic>n<\/jats:italic>\u2009=\u20099) and <jats:italic>PAX5\u2010r<\/jats:italic> (<jats:italic>n<\/jats:italic>\u2009=\u200910) accounted for 27% and 30.3%, respectively. The <jats:italic>NUTM1<\/jats:italic>\u2010r and <jats:italic>PAX5<\/jats:italic>\u2010r groups showed excellent survival rates, with 2\u2010year EFS of 80% (95% CI, 52%\u2013100%) and 100% (95% CI, 100%\u2013100%), respectively, but the small cohort size limit the statistical power of the analysis (log\u2010rank test, <jats:italic>p<\/jats:italic>\u2009=\u20090.9).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Survival in the <jats:italic>KMT2A<\/jats:italic>\u2010r group did not differ by fusion partner. <jats:italic>NUTM1<\/jats:italic> rearrangements showed a favorable prognosis, and <jats:italic>PAX5<\/jats:italic>\u2010rearranged patients had better outcomes than previously reported. In the <jats:italic>NUTM1<\/jats:italic>\u2010r group, the most common fusion, <jats:italic>BRD9:NUTM1<\/jats:italic>, showed variability in breakpoints (Exons 3, 8, and 14 of <jats:italic>BRD9<\/jats:italic>).<\/jats:p><\/jats:sec>","DOI":"10.1111\/ijlh.14442","type":"journal-article","created":{"date-parts":[[2025,3,11]],"date-time":"2025-03-11T20:59:06Z","timestamp":1741726746000},"page":"472-480","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Genetic Diversity in <scp><i>KMT2A<\/i><\/scp>\u2010r and <scp><i>KMT2A<\/i><\/scp>\u2010Wt Groups: Assessing the Prognostic Value of Markers in <scp>BCP<\/scp>\u2010<scp>ALL<\/scp> Among Infants"],"prefix":"10.1111","volume":"47","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0612-3223","authenticated-orcid":false,"given":"Karina","family":"Ilyasova","sequence":"first","affiliation":[{"name":"Dmitry Rogachev National Research and Clinical Centre for Pediatric 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