{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,21]],"date-time":"2026-08-21T12:26:37Z","timestamp":1787315197662,"version":"build-2736575974"},"reference-count":17,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2024,5,14]],"date-time":"2024-05-14T00:00:00Z","timestamp":1715644800000},"content-version":"vor","delay-in-days":13,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Case Reports"],"published-print":{"date-parts":[[2024,5]]},"abstract":"\n Key Clinical Message<\/jats:title>\n \n In a patient with de novo AML, co\u2010existing\n BCR::ABL1 p190<\/jats:italic>\n isoform and\n RUNX1::MECOM<\/jats:italic>\n rearrangement is accompanied by a very poor prognosis including limited response to treatment and no molecular remission. It is essential to develop a consensus on the therapeutic modalities different from the current regimen.\n <\/jats:p>\n <\/jats:sec>\n \n Abstract<\/jats:title>\n \n Acquisition of\n BCR::ABL1<\/jats:italic>\n fusion as a primary or secondary event and\n RUNX1::MECOM<\/jats:italic>\n fusion independently is reported in de novo and therapy\u2010related MDS\/AML, albeit with low frequency (<0.5%). Coexistence of\n BCR::ABL1<\/jats:italic>\n and\n MECOM<\/jats:italic>\n translocation is known to cause leukemogenesis in animal models and progression towards blast crisis CML but not AML. Here we report a unique case of pediatric AML with concomitant BCR::ABL1 and RUNX1::MECOM fusion.Routine diagnostic work\u2010up included WBC manual differential, immunophenotype, morphology, qPCR, FISH, and NGS\u2010based CNV analyses. The patient presented with history of fever, dizziness, fatigue, gingival bleeding, and epistaxis associated with ecchymosis in right hand and heavy, prolonged menstrual period. At presentation, her hemoglobin was 5.3\u2009g\/dL, WBC 52.1(10*9\/L), PLT 10(10*9\/L), ESR 5\u2009mm\/h and LDH 2658\u2009U\/L. Bone marrow was hypercellular with 71% blasts, and flow cytometry showed myeloid markers including CD11c, CD33, CD34, and CD45 among others indicating AML with monocytic differentiation. FISH analyses showed variant t(9;22) (q34.1;q11.1), one additional copy each of chromosome 8 and\n Runx1<\/jats:italic>\n gene, while NGS\u2010based CNV analyses revealed a terminal and proximal pathogenic gain within 9q34.12q34.3 and 22q11.1q11.23, respectively, and gain of entire chromosome 8 and 12 in mosaic state. qPCR confirmed the presence of\n p190<\/jats:italic>\n and also revealed\n RUNX1::MECOM<\/jats:italic>\n fusion. Patient received ADE (cytarabine, daunorubicin, and etoposide) induction regimen but required multiple ICU admissions due to sepsis, cardiac shock, acute myocarditis, and thyroiditis. Coexisting\n BCR::ABL1<\/jats:italic>\n and\n RUNX1::MECOM<\/jats:italic>\n fusion is suggestive of poor prognosis, and a need for consensus on the treatment modalities other than the current regimen is warranted.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1002\/ccr3.8917","type":"journal-article","created":{"date-parts":[[2024,5,14]],"date-time":"2024-05-14T23:40:09Z","timestamp":1715730009000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["A rare presentation of\n BCR\u2010ABL1<\/scp>\n and\n RUNX1\u2010MECOM<\/scp>\n rearrangement in a pediatric patient with acute myeloid leukemia"],"prefix":"10.1002","volume":"12","author":[{"given":"Ragdah M.","family":"Alamri","sequence":"first","affiliation":[{"name":"Molecular Pathology (Genetics), Cytogenetics and Hemato\u2010pathology Section, Pathology and Clinical Laboratory Medicine Administration, King Fahad Medical City Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maryam","family":"Alanazi","sequence":"additional","affiliation":[{"name":"Molecular Pathology (Genetics), Cytogenetics and Hemato\u2010pathology Section, Pathology and Clinical Laboratory Medicine Administration, King Fahad Medical City Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rajeh K.","family":"AlRajeh","sequence":"additional","affiliation":[{"name":"Molecular Pathology (Genetics), Cytogenetics and Hemato\u2010pathology Section, Pathology and Clinical Laboratory Medicine Administration, King Fahad Medical City Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suha A.","family":"Tashkandi","sequence":"additional","affiliation":[{"name":"Molecular Pathology (Genetics), Cytogenetics and Hemato\u2010pathology Section, Pathology and Clinical Laboratory Medicine Administration, King Fahad Medical City Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Azizah F.","family":"Alswayyed","sequence":"additional","affiliation":[{"name":"Molecular Pathology (Genetics), Cytogenetics and Hemato\u2010pathology Section, Pathology and Clinical Laboratory Medicine Administration, King Fahad Medical City Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manar A.","family":"Samman","sequence":"additional","affiliation":[{"name":"Molecular Pathology (Genetics), Cytogenetics and Hemato\u2010pathology Section, Pathology and Clinical Laboratory Medicine Administration, King Fahad Medical City Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9172-712X","authenticated-orcid":false,"given":"Abdul Ali","family":"Peer\u2010Zada","sequence":"additional","affiliation":[{"name":"Molecular Pathology (Genetics), Cytogenetics and Hemato\u2010pathology Section, Pathology and Clinical 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