Clinical, morphological and genetic characteristics of patients with concurrent presence of JAK2 V617F and BCR::ABL1
Diagnosis and treatment of chronic myeloid neoplasms with two concurrently present driver mutations is challenging. We report on 10 JAK2 V617Fpos/BCR::ABL1pos patients in whom both mutations were identified simultaneously in 5/10 (50%) patients or in whom BCR::ABL1 appeared a median of 14 years afte...
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| Main Authors: | , , , , , , , , , , , , , , |
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| Format: | Article (Journal) |
| Language: | English |
| Published: |
18 July 2025
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| In: |
Scientific reports
Year: 2025, Volume: 15, Pages: 1-12 |
| ISSN: | 2045-2322 |
| DOI: | 10.1038/s41598-025-11096-6 |
| Online Access: | Verlag, kostenfrei, Volltext: https://doi.org/10.1038/s41598-025-11096-6 Verlag, kostenfrei, Volltext: http://www.nature.com/articles/s41598-025-11096-6 
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| Author Notes: | Nicole Naumann, Vito Dangelo, Johannes Lübke, Jakob Bresser, Volker Hagen, Jolanta Dengler, Georgia Metzgeroth, Sebastian Kreil, Tabea Hockenberger, Wolf-Karsten Hofmann, Alice Fabarius, Susanne Saussele, Nicholas C.P. Cross, Andreas Reiter & Juliana Schwaab |
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| 245 | 1 | 0 | |a Clinical, morphological and genetic characteristics of patients with concurrent presence of JAK2 V617F and BCR::ABL1 |c Nicole Naumann, Vito Dangelo, Johannes Lübke, Jakob Bresser, Volker Hagen, Jolanta Dengler, Georgia Metzgeroth, Sebastian Kreil, Tabea Hockenberger, Wolf-Karsten Hofmann, Alice Fabarius, Susanne Saussele, Nicholas C.P. Cross, Andreas Reiter & Juliana Schwaab |
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| 520 | |a Diagnosis and treatment of chronic myeloid neoplasms with two concurrently present driver mutations is challenging. We report on 10 JAK2 V617Fpos/BCR::ABL1pos patients in whom both mutations were identified simultaneously in 5/10 (50%) patients or in whom BCR::ABL1 appeared a median of 14 years after the primary diagnosis of JAK2 V617Fpos myeloproliferative neoplasia (MPN) in the remaining 5 patients. Granulocyte-macrophage colony-forming unit (CFU-GM) analysis demonstrated subsequent acquisition of BCR::ABL1 in a pre-existing JAK2 V617Fpos clone in 8/9 (89%) of evaluable patients. Despite the presence of JAK2 V617F in all patients, atypical BCR::ABL1 transcripts (e1a2/e19a2) in 3/9 (33%) patients and additional somatic mutations in 5/9 (56%) patients, molecular remission of BCR::ABL1 was achieved with different ABL1 TKIs (imatinib, n = 2, dasatinib, n = 2, nilotinib, n = 3) in 7/9 (78%) patients. During a total of 217 months of treatment, concomitant treatment with ABL1 TKIs and ruxolitinib did not affect dosing, efficacy or side effects. We conclude that (i) a second driver mutation might occur in chronic phase MPNs, (ii) clonality analyses largely support a common disease origin, and (iii) the dose, efficacy and safety of ABL1 inhibitors and ruxolitinib are not mutually affected by concurrent treatment. | ||
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