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◆ BMJ case reports2026-08-10

First Philippine report of myeloproliferative neoplasms with concurrent JAK2 and BCR::ABL1 mutations.

Rene A Amadore, Rowel David R Yap, Anne Kristine H Quero-Taggaoa

原始摘要(英文原文)· Original abstract
Myeloproliferative neoplasms (MPNs) are broadly classified into BCR::ABL1-positive chronic myeloid leukaemia (CML) and BCR::ABL1-negative subtypes such as polycythaemia vera (PV), essential thrombocythaemia and primary myelofibrosis. Although traditionally considered mutually exclusive, rare cases of coexisting BCR::ABL1 rearrangement and Janus kinase 2 (JAK2) mutation have increasingly been recognised.We report the first Philippine case series of three patients with concurrent CML and JAK2-positive MPNs. Two patients developed PV 6-9 years after the initial diagnosis of CML despite ongoing tyrosine kinase inhibitor (TKI) therapy and molecular response, while a third patient had persistent thrombocytosis and was later found to have a concomitant JAK2-mutated MPN with fibrotic marrow features after 4 years.Compared with previously reported cases, our series demonstrates similarly delayed emergence of JAK2-mutated clones while highlighting real-world challenges in TKI intolerance, sequential TKI use and the need for combined cytoreductive strategies in a resource-limited setting.
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First Philippine report of myeloproliferative neoplasms with concurrent JAK2 and BCR::ABL1 mutations. — 科研速览 Science Skim