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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: Naumann, Nicole (Author) , Dangelo, Vito (Author) , Lübke, Johannes (Author) , Bresser, Jakob (Author) , Hagen, Volker (Author) , Dengler, Jolanta (Author) , Metzgeroth, Georgia (Author) , Kreil, Sebastian (Author) , Hockenberger, Tabea (Author) , Hofmann, Wolf-Karsten (Author) , Fabarius, Alice (Author) , Saußele, Susanne (Author) , Cross, Nicholas C. P. (Author) , Reiter, Andreas (Author) , Schwaab, Juliana (Author)
Format: Article (Journal)
Language:English
Published: 18 July 2025
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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Summary: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.
Item Description:Gesehen am 16.09.2025
Im Titel ist "BCR::ABL1" mit einem Bereichsauflösungsoperator geschrieben
Physical Description:Online Resource
ISSN:2045-2322
DOI:10.1038/s41598-025-11096-6

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