Clinical, morphological and genetic characteristics of patients with concurrent presence of JAK2 V617F and BCR::ABL1.

ABSTRACT: Diagnosis and treatment of chronic myeloid neoplasms with two concurrently present driver mutations is challenging. We report on 10 JAK2 V617F^pos/BCR::ABL1^pos 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 V617F^pos 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 V617F^pos 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%) pat

SUBMITTER: Naumann N 

PROVIDER: S-EPMC12274285 | biostudies-literature | 2025 Jul

REPOSITORIES: biostudies-literature