{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,2]],"date-time":"2026-11-02T18:30:25Z","timestamp":1793644225173,"version":"4.5.1"},"reference-count":49,"publisher":"American Society of Hematology","issue":"8","license":[{"start":{"date-parts":[[2022,6,16]],"date-time":"2022-06-16T00:00:00Z","timestamp":1655337600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/legalcode"}],"content-domain":{"domain":["ashpublications.org"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2022,8,25]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Detailed genomic and epigenomic analyses of MECOM (the MDS1 and EVI1 complex locus) have revealed that inversion or translocation of chromosome 3 drives inv(3)\/t(3;3) myeloid leukemias via structural rearrangement of an enhancer that upregulates transcription of EVI1. Here, we identify a novel, previously unannotated oncogenic RNA-splicing derived isoform of EVI1 that is frequently present in inv(3)\/t(3;3) acute myeloid leukemia (AML) and directly contributes to leukemic transformation. This EVI1 isoform is generated by oncogenic mutations in the core RNA splicing factor SF3B1, which is mutated in &amp;gt;30% of inv(3)\/t(3;3) myeloid neoplasm patients and thereby represents the single most commonly cooccurring genomic alteration in inv(3)\/t(3;3) patients. SF3B1 mutations are statistically uniquely enriched in inv(3)\/t(3;3) myeloid neoplasm patients and patient-derived cell lines compared with other forms of AML and promote mis-splicing of EVI1 generating an in-frame insertion of 6 amino acids at the 3\u2032 end of the second zinc finger domain of EVI1. Expression of this EVI1 splice variant enhanced the self-renewal of hematopoietic stem cells, and introduction of mutant SF3B1 in mice bearing the humanized inv(3)(q21q26) allele resulted in generation of this novel EVI1 isoform in mice and hastened leukemogenesis in\u00a0vivo. The mutant SF3B1 spliceosome depends upon an exonic splicing enhancer within EVI1 exon 13 to promote usage of a cryptic branch point and aberrant 3\u2032 splice site within intron 12 resulting in the generation of this isoform. These data provide a mechanistic basis for the frequent cooccurrence of SF3B1 mutations as well as new insights into the pathogenesis of myeloid leukemias harboring inv(3)\/t(3;3).<\/jats:p>","DOI":"10.1182\/blood.2021015325","type":"journal-article","created":{"date-parts":[[2022,6,16]],"date-time":"2022-06-16T18:52:52Z","timestamp":1655405572000},"page":"875-888","update-policy":"https:\/\/doi.org\/10.1182\/blood.2019cm0000","source":"Crossref","is-referenced-by-count":25,"title":["Aberrant <i>EVI1<\/i> splicing contributes to <i>EVI1<\/i>-rearranged leukemia"],"prefix":"10.1182","volume":"140","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9449-4894","authenticated-orcid":false,"given":"Atsushi","family":"Tanaka","sequence":"first","affiliation":[{"name":"1Department of Hematology-Oncology, Institute of Biomedical Research and Innovation, Foundation for Biomedical Research and Innovation at Kobe, Kobe, Hyogo, Japan;"},{"name":"2Laboratory of Immunology, Institute for Life and Medical Sciences, Kyoto University, Kyoto, Japan;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Taizo A.","family":"Nakano","sequence":"additional","affiliation":[{"name":"3Department of Pediatrics, Section of Hematology, Oncology and Bone Marrow Transplantation, University of Colorado, Aurora, CO;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masaki","family":"Nomura","sequence":"additional","affiliation":[{"name":"1Department of Hematology-Oncology, Institute of Biomedical Research and Innovation, Foundation for Biomedical Research and Innovation at Kobe, Kobe, Hyogo, Japan;"},{"name":"4Facility for iPS Cell Therapy, CiRA Foundation, Kyoto, Japan;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiromi","family":"Yamazaki","sequence":"additional","affiliation":[{"name":"1Department of Hematology-Oncology, Institute of Biomedical Research and Innovation, Foundation for Biomedical Research and Innovation at Kobe, Kobe, Hyogo, Japan;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan P.","family":"Bewersdorf","sequence":"additional","affiliation":[{"name":"5Human Oncology and Pathogenesis Program, Memorial Sloan Kettering Cancer Center, New York, NY, United States;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0298-7948","authenticated-orcid":false,"given":"Roger","family":"Mulet-Lazaro","sequence":"additional","affiliation":[{"name":"6Department of Hematology, Erasmus MC Cancer Institute, Rotterdam, The Netherlands;"},{"name":"7Oncode Institute, Utrecht, The Netherlands;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simon","family":"Hogg","sequence":"additional","affiliation":[{"name":"5Human Oncology and Pathogenesis Program, Memorial Sloan Kettering Cancer Center, New York, NY, United States;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bo","family":"Liu","sequence":"additional","affiliation":[{"name":"5Human Oncology and Pathogenesis Program, Memorial Sloan Kettering Cancer Center, New York, NY, United States;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2429-2370","authenticated-orcid":false,"given":"Alex","family":"Penson","sequence":"additional","affiliation":[{"name":"5Human Oncology and Pathogenesis Program, Memorial Sloan Kettering Cancer Center, New York, NY, United States;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5639-8068","authenticated-orcid":false,"given":"Akihiko","family":"Yokoyama","sequence":"additional","affiliation":[{"name":"8Tsuruoka Metabolomics Laboratory, National Cancer Center, Yamagata, Japan;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Weijia","family":"Zang","sequence":"additional","affiliation":[{"name":"1Department of Hematology-Oncology, Institute of Biomedical Research and Innovation, Foundation for Biomedical Research and Innovation at Kobe, Kobe, Hyogo, Japan;"},{"name":"9Department of Hematology and Oncology, Graduate School of Medicine, Kyoto University, Kyoto, Japan;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marije","family":"Havermans","sequence":"additional","affiliation":[{"name":"6Department of Hematology, Erasmus MC Cancer Institute, Rotterdam, The Netherlands;"},{"name":"7Oncode Institute, Utrecht, The Netherlands;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miho","family":"Koizumi","sequence":"additional","affiliation":[{"name":"10Field of Human Disease Models, Major in Advanced Life Sciences and Medicine, Tokyo Women\u2019s Medical University, Tokyo, Japan;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yasutaka","family":"Hayashi","sequence":"additional","affiliation":[{"name":"1Department of Hematology-Oncology, Institute of Biomedical Research and Innovation, Foundation for Biomedical Research and Innovation at Kobe, Kobe, Hyogo, Japan;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hana","family":"Cho","sequence":"additional","affiliation":[{"name":"5Human Oncology and Pathogenesis Program, Memorial Sloan Kettering Cancer Center, New York, NY, United States;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akinori","family":"Kanai","sequence":"additional","affiliation":[{"name":"11Department of Molecular Oncology and Leukemia Program Project, Research Institute for Radiation Biology and Medicine, Hiroshima University, Hiroshima, Japan;"},{"name":"12Department of Computational Biology and Medical Sciences, Graduate School of Frontier Sciences, The University of Tokyo, Chiba, Japan;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stanley C.","family":"Lee","sequence":"additional","affiliation":[{"name":"13Clinical Research Division, Fred Hutchinson Cancer Center, Seattle, WA;"},{"name":"14Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muran","family":"Xiao","sequence":"additional","affiliation":[{"name":"1Department of Hematology-Oncology, Institute of Biomedical Research and Innovation, Foundation for Biomedical Research and Innovation at Kobe, Kobe, Hyogo, Japan;"},{"name":"15Division of Cellular Therapy, The Institute of Medical Science, The University of Tokyo, Tokyo, Japan;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yui","family":"Koike","sequence":"additional","affiliation":[{"name":"1Department of Hematology-Oncology, Institute of Biomedical Research and Innovation, Foundation for Biomedical Research and Innovation at Kobe, Kobe, Hyogo, Japan;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yifan","family":"Zhang","sequence":"additional","affiliation":[{"name":"1Department of Hematology-Oncology, Institute of Biomedical Research and Innovation, Foundation for Biomedical Research and Innovation at Kobe, Kobe, Hyogo, Japan;"},{"name":"9Department of Hematology and Oncology, Graduate School of Medicine, Kyoto University, Kyoto, Japan;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miki","family":"Fukumoto","sequence":"additional","affiliation":[{"name":"1Department of Hematology-Oncology, Institute of Biomedical Research and Innovation, Foundation for Biomedical Research and Innovation at Kobe, Kobe, Hyogo, Japan;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yumi","family":"Aoyama","sequence":"additional","affiliation":[{"name":"1Department of Hematology-Oncology, Institute of Biomedical Research and Innovation, Foundation for Biomedical Research and Innovation at Kobe, Kobe, Hyogo, Japan;"},{"name":"9Department of Hematology and Oncology, Graduate School of Medicine, Kyoto University, Kyoto, Japan;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4412-2849","authenticated-orcid":false,"given":"Tsuyoshi","family":"Konuma","sequence":"additional","affiliation":[{"name":"16Structural Epigenetics Laboratory, and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroyoshi","family":"Kunimoto","sequence":"additional","affiliation":[{"name":"17Department of Stem Cell and Immune Regulation, Graduate School of Medicine, Yokohama City University, Yokohama, Kanagawa, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3455-6010","authenticated-orcid":false,"given":"Toshiya","family":"Inaba","sequence":"additional","affiliation":[{"name":"11Department of Molecular Oncology and Leukemia Program Project, Research Institute for Radiation Biology and Medicine, Hiroshima University, Hiroshima, Japan;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hideaki","family":"Nakajima","sequence":"additional","affiliation":[{"name":"17Department of Stem Cell and Immune Regulation, Graduate School of Medicine, Yokohama City University, Yokohama, Kanagawa, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroaki","family":"Honda","sequence":"additional","affiliation":[{"name":"10Field of Human Disease Models, Major in Advanced Life Sciences and Medicine, Tokyo Women\u2019s Medical University, Tokyo, Japan;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroshi","family":"Kawamoto","sequence":"additional","affiliation":[{"name":"2Laboratory of Immunology, Institute for Life and Medical Sciences, Kyoto University, Kyoto, 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