{"id":208762,"date":"2025-03-15T05:26:26","date_gmt":"2025-03-15T10:26:26","guid":{"rendered":"https:\/\/lifeboat.com\/blog\/2025\/03\/acute-myeloid-leukemia-with-runx1cbfa2t3-fusion"},"modified":"2025-03-15T05:26:26","modified_gmt":"2025-03-15T10:26:26","slug":"acute-myeloid-leukemia-with-runx1cbfa2t3-fusion","status":"publish","type":"post","link":"https:\/\/lifeboat.com\/blog\/2025\/03\/acute-myeloid-leukemia-with-runx1cbfa2t3-fusion","title":{"rendered":"Acute myeloid leukemia with RUNX1::CBFA2T3 fusion"},"content":{"rendered":"<p style=\"padding-right: 20px\"><a class=\"aligncenter blog-photo\" href=\"https:\/\/lifeboat.com\/blog.images\/acute-myeloid-leukemia-with-runx1cbfa2t3-fusion.jpg\"><\/a><\/p>\n<p>A 69-year-old man with metastatic prostate adenocarcinoma, treated with chemotherapy 3 years ago, presented with pancytopenia (white blood cells, 3.1 \u00d7 109\/L; hemoglobin, 11.1 g\/L; platelets, 47 \u00d7 109\/L). A bone marrow aspirate revealed increased blasts with folded nuclei, deeply basophilic cytoplasm, prominent nucleoli, perinuclear hofs, and occasional salmon-colored cytoplasmic granules without Auer rods (panel A, Giemsa stain, original magnification \u00d71000, lens objective 100\u00d7). The blasts were positive for CD34, CD13, CD19, CD25 (partial), CD33, CD38 (decreased), CD45 (dim), CD64 (partial), CD79a (dim), CD117, CD123, HLA-DR (bright), and myeloperoxidase and negative for CD7, CD10, CD14, CD20, CD22, CD36, CD56, cytoplasmic IgM and terminal deoxynucleotidyl transferase (panel B). Next-generation sequencing detected a DNMT3A mutation (F794del, variant allelic frequency 2%), likely representing bystander clonal hematopoiesis. Cytogenetic analysis revealed an abnormal karyotype (46,XY,+1,der(1;15)(q10;q10), t(16;21)(q24;q22)[20]) (panel C). Result of dual-color fusion fluorescence in situ hybridization (FISH) was negative for RUNX1::RUNX1T1. Nevertheless, 23% of the cells exhibited 3 copies of RUNX1, suggesting RUNX1 rearrangement with another partner (panel D); RUNX1 rearrangement was confirmed by FISH using a break-apart probe (panel E). Optical genome mapping confirmed the presence of RUNX1::CBFA2T3 (panel F). Acute myeloid leukemia (AML) with RUNX1::CBFA2T3 is a rare AML with characteristic morphologic and immunophenotypic features that overlap with AML with RUNX1::RUNX1T1. This case highlights the morphologic and immunophenotypic similarities between these AML subtypes and raises awareness of this rare entity.<\/p>\n<hr>\n<p>Wei J. Wang, Sanam Loghavi; Acute myeloid leukemia with <em>RUNX1<\/em>:: <em>CBFA2T3<\/em> fusion. <em><em>Blood<\/em><\/em> 2025; 145 (11): 1226. doi: <a href=\"https:\/\/doi.org\/10.1182\/blood.2024027698\" target=\"_blank\"><a href=\"https:\/\/doi.org\/10.1182\/blood.2024027698\">https:\/\/doi.org\/10.1182\/blood.2024027698<\/a><\/a><\/p>\n<p>Download citation file:<\/p>\n","protected":false},"excerpt":{"rendered":"<p>A 69-year-old man with metastatic prostate adenocarcinoma, treated with chemotherapy 3 years ago, presented with pancytopenia (white blood cells, 3.1 \u00d7 109\/L; hemoglobin, 11.1 g\/L; platelets, 47 \u00d7 109\/L). A bone marrow aspirate revealed increased blasts with folded nuclei, deeply basophilic cytoplasm, prominent nucleoli, perinuclear hofs, and occasional salmon-colored cytoplasmic granules without Auer rods (panel [\u2026]<\/p>\n","protected":false},"author":662,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[11,412],"tags":[],"class_list":["post-208762","post","type-post","status-publish","format-standard","hentry","category-biotech-medical","category-genetics"],"_links":{"self":[{"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/posts\/208762","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/users\/662"}],"replies":[{"embeddable":true,"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/comments?post=208762"}],"version-history":[{"count":0,"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/posts\/208762\/revisions"}],"wp:attachment":[{"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/media?parent=208762"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/categories?post=208762"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/tags?post=208762"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}