{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,25]],"date-time":"2026-06-25T12:52:43Z","timestamp":1782391963413,"version":"3.54.5"},"reference-count":33,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2026,6,12]],"date-time":"2026-06-12T00:00:00Z","timestamp":1781222400000},"content-version":"vor","delay-in-days":11,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,6,1]],"date-time":"2026-06-01T00:00:00Z","timestamp":1780272000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Genes Chromosomes & Cancer"],"published-print":{"date-parts":[[2026,6]]},"abstract":"ABSTRACT<\/jats:title>\n \n Introduction<\/jats:title>\n \n Alterations involving\n RUNX1<\/jats:italic>\n are recurrent in hematologic malignancies and contribute to disease pathogenesis via dysregulation of transcriptional factors essential for hematopoiesis. Here, we report an acquired alteration in both alleles of\n RUNX1<\/jats:italic>\n ; one is a truncating mutation and the second is a novel\n RUNX1::ARID1B<\/jats:italic>\n identified in acute myeloid leukemia.\n <\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n Bone marrow samples were assessed by morphologic examination and flow cytometry. Cytogenetic analysis was performed using conventional G\u2010banded karyotyping and fluorescence in\u00a0situ hybridization (FISH). Molecular profiling was performed using next\u2010generation sequencing (NGS) for single nucleotide changes, copy number variations, gene fusions, and expression.<\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n Morphology showed large\u2010sized myeloblasts that are CD34+ and CD45+ (dim) consistent with acute myeloid leukemia. Genetic analysis of diagnostic specimen showed normal karyotype and FISH results but detected mutations in\n IDH1<\/jats:italic>\n and\n RUNX1<\/jats:italic>\n . Cytogenetic analysis of a specimen at relapse showed complex abnormal karyotype and FISH detected\n RUNX1<\/jats:italic>\n rearrangement with 6q25. NGS identified this rearrangement as\n RUNX1::ARID1B<\/jats:italic>\n . Thus, at this stage leukemia cells had \u201cdouble\u2010hit\u201d abnormality in\n RUNX1<\/jats:italic>\n . Gene transcript evaluation showed elevated levels of transcripts of both\n RUNX1<\/jats:italic>\n and\n ARIDB1<\/jats:italic>\n .\n <\/jats:p>\n <\/jats:sec>\n \n Conclusion<\/jats:title>\n \n This study expands the spectrum of\n RUNX1<\/jats:italic>\n fusions and highlights the integral diagnostic value of morphology, flow cytometry, cytogenetics, FISH, and NGS analyses for broad structural variant detection in clinical practice. Furthermore, the truncating mutation in one allele of\n RUNX1<\/jats:italic>\n and\n RUNX1<\/jats:italic>\n ::\n ARID1B<\/jats:italic>\n of the second allele detected with advanced disease suggests the possibility of combined transcriptional and chromatin regulatory alterations in disease recurrence in the patient.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1002\/gcc.70148","type":"journal-article","created":{"date-parts":[[2026,6,12]],"date-time":"2026-06-12T11:56:12Z","timestamp":1781265372000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Cytogenetic and Molecular Analysis of a \u201cDouble\u2010Hit\u201d\n RUNX1<\/i>\n Including a\n RUNX1<\/i>\n p.Trp279* and a Cryptic Novel t(6;21)(q25;q22)\/\n RUNX1<\/i>\n ::\n ARID1B<\/i>\n in Acute Myeloid Leukemia"],"prefix":"10.1002","volume":"65","author":[{"given":"Rolando","family":"Garc\u00eda","sequence":"first","affiliation":[{"name":"Department of Pathology UT Southwestern Medical Center Dallas Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jing","family":"Xu","sequence":"additional","affiliation":[{"name":"Department of Pathology UT Southwestern Medical Center Dallas Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lan","family":"Yu","sequence":"additional","affiliation":[{"name":"Department of Pathology UT Southwestern Medical Center Dallas Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kalayarasan","family":"Srinivasan","sequence":"additional","affiliation":[{"name":"Department of Pathology UT Southwestern Medical Center Dallas Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9275-6056","authenticated-orcid":false,"given":"Sharon Koorse","family":"Germans","sequence":"additional","affiliation":[{"name":"Department of Pathology UT Southwestern Medical Center Dallas Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olga","family":"Weinberg","sequence":"additional","affiliation":[{"name":"Department of Pathology UT Southwestern Medical Center Dallas Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Franklin","family":"Fuda","sequence":"additional","affiliation":[{"name":"Department of Pathology UT Southwestern Medical Center Dallas Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5638-4371","authenticated-orcid":false,"given":"Weina","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Pathology UT Southwestern Medical Center Dallas Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7109-5906","authenticated-orcid":false,"given":"Prasad","family":"Koduru","sequence":"additional","affiliation":[{"name":"Department of Pathology UT Southwestern Medical Center Dallas Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,6,12]]},"reference":[{"issue":"5","key":"e_1_2_11_2_1","first-page":"e25372","article-title":"A Systematic Review of the Role of Runt\u2010Related Transcription Factor 1 (RUNX1) in the Pathogenesis of Hematological Malignancies in Patients With Inherited Bone Marrow Failure Syndromes","volume":"14","author":"Illango J.","year":"2022","journal-title":"Cureus"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/0168-9525(93)90026-E"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.16.7.3967"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2016-10-687830"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.2217\/fon.10.158"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.exphem.2010.02.011"},{"key":"e_1_2_11_8_1","first-page":"33","volume-title":"Advances in Cancer Research","author":"Ito Y.","year":"2008"},{"key":"e_1_2_11_9_1","doi-asserted-by":"crossref","first-page":"D920","DOI":"10.1093\/nar\/gks1082","article-title":"Atlas of Genetics and Cytogenetics in Oncology and Haematology in 2013","volume":"41","author":"Huret J. 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