{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,9]],"date-time":"2026-09-09T08:07:04Z","timestamp":1788941224163,"version":"build-2803163510"},"reference-count":37,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2026,5,15]],"date-time":"2026-05-15T00:00:00Z","timestamp":1778803200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,5,15]],"date-time":"2026-05-15T00:00:00Z","timestamp":1778803200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/100012161","name":"Faculty of Medicine, University of British Columbia","doi-asserted-by":"publisher","award":["5728"],"award-info":[{"award-number":["5728"]}],"id":[{"id":"10.13039\/100012161","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Int J Lab Hematology"],"published-print":{"date-parts":[[2026,10]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Introduction<\/jats:title>\n                    <jats:p>\n                      RUNX1 is a commonly mutated transcriptional regulator of hematopoiesis in acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS). Mutated\n                      <jats:italic>RUNX1<\/jats:italic>\n                      (m\n                      <jats:italic>RUNX1<\/jats:italic>\n                      ) may associate with cross\u2010lineage immunophenotypic aberrancy, presenting potential complications for blast lineage assignment at diagnosis.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      Clinical and laboratory data were reviewed for patients with\n                      <jats:italic>RUNX1<\/jats:italic>\n                      mutations (\n                      <jats:italic>N<\/jats:italic>\n                      \u2009=\u2009125) at Vancouver General Hospital from 2016 to 2022. Diagnostic flow cytometry data were reanalyzed, and\n                      <jats:italic>RUNX1<\/jats:italic>\n                      mutation characteristics and associations with pathologic, comutation, and flow cytometric features were assessed.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Missense\n                      <jats:italic>RUNX1<\/jats:italic>\n                      mutations (overall 42.9% missense, 57.1% truncating) were enriched in the runt homology domain (RHD; 81.7%, Adj.\n                      <jats:italic>p<\/jats:italic>\n                      \u2009=\u20090.011). Several recurrent hotspot mutations were seen, including common hotspot variants. The most commonly comutated genes with\n                      <jats:italic>RUNX1<\/jats:italic>\n                      in both acute leukemia with m\n                      <jats:italic>RUNX1<\/jats:italic>\n                      and MDS\u2010m\n                      <jats:italic>RUNX1<\/jats:italic>\n                      were\n                      <jats:italic>ASXL1<\/jats:italic>\n                      (44.4%; 59.3%),\n                      <jats:italic>SRSF2<\/jats:italic>\n                      (40.7%; 37.3%), and\n                      <jats:italic>TET2<\/jats:italic>\n                      (35.8%; 55.9%). The m\n                      <jats:italic>RUNX1<\/jats:italic>\n                      group demonstrated frequent positivity for B\u2010lymphoid markers, with 14.4% having increased expression in at least three B\u2010lineage markers. Differences in antigen expression were associated with\n                      <jats:italic>RUNX1<\/jats:italic>\n                      mutation type and location, with increased CD10 expression associated with\n                      <jats:italic>RUNX1<\/jats:italic>\n                      mutations in the RHD (Adj.\n                      <jats:italic>p<\/jats:italic>\n                      \u2009=\u20090.02764), and increased CD79a expression associated with\n                      <jats:italic>RUNX1<\/jats:italic>\n                      missense mutations (Adj.\n                      <jats:italic>p<\/jats:italic>\n                      \u2009=\u20090.004452).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      In our cohort, we observed missense variants clustering in the RHD and recurrence of common pathogenic variants. Higher\u2010risk comutations were found in a substantial fraction of m\n                      <jats:italic>RUNX1<\/jats:italic>\n                      cases which may contribute to its adverse risk associations. Comparable degrees of aberrancy in B\u2010lineage markers were seen in m\n                      <jats:italic>RUNX1<\/jats:italic>\n                      patients versus the comparator cohorts of MPAL\u2010wt\n                      <jats:italic>RUNX1<\/jats:italic>\n                      and AML with rearranged\n                      <jats:italic>RUNX1<\/jats:italic>\n                      .\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/ijlh.70145","type":"journal-article","created":{"date-parts":[[2026,5,15]],"date-time":"2026-05-15T13:37:09Z","timestamp":1778852229000},"page":"1094-1102","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Immunophenotypic, Genetic, and Clinical Features Associated With\n                    <scp>\n                      <i>RUNX1<\/i>\n                    <\/scp>\n                    Mutation in Acute Leukemias and Chronic Myeloid Neoplasms"],"prefix":"10.1111","volume":"48","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7790-5655","authenticated-orcid":false,"given":"Yi Han","family":"Xia","sequence":"first","affiliation":[{"name":"Faculty of Medicine University of British Columbia  Vancouver British Columbia Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3360-5471","authenticated-orcid":false,"given":"Eric","family":"McGinnis","sequence":"additional","affiliation":[{"name":"Faculty of Medicine University of British Columbia  Vancouver British Columbia Canada"},{"name":"Vancouver General Hospital  Vancouver British Columbia Canada"},{"name":"Department of Pathology and Laboratory Medicine University of British Columbia  Vancouver British Columbia Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,5,15]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood\u20102016\u201010\u2010687830"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1387\/ijdb.103106gs"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrc840"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1079\u20109796(03)00022\u20106"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.88.23.10431"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.onc.1207779"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.leukres.2024.107483"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.2022017735"},{"key":"e_1_2_12_10_1","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2012.064667"},{"key":"e_1_2_12_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/leu.2016.150"},{"key":"e_1_2_12_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41375\u2010022\u201001613\u20101"},{"key":"e_1_2_12_13_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.2022015850"},{"key":"e_1_2_12_14_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V80.2.470.470"},{"key":"e_1_2_12_15_1","doi-asserted-by":"publisher","DOI":"10.1159\/000493688"},{"key":"e_1_2_12_16_1","doi-asserted-by":"publisher","DOI":"10.3390\/cancers17081354"},{"key":"e_1_2_12_17_1","doi-asserted-by":"publisher","DOI":"10.3390\/biomedicines10081974"},{"key":"e_1_2_12_18_1","unstructured":"R Core Team \u201cR: A Language and Environment for Statistical Computing \u201dR Foundation for Statistical Computing 2024 https:\/\/www.R\u2010project.org\/."},{"key":"e_1_2_12_19_1","doi-asserted-by":"publisher","DOI":"10.21105\/joss.01686"},{"key":"e_1_2_12_20_1","volume-title":"Modeling Survival Data: Extending the Cox Model","author":"Therneau T. 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