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Similar Publications

JAK2-V617F mutation among blood donors: A meta-analysis.

Saudi Med J

December 2024

From the Department of Preventive Medicine (Alsharif, Alharazi), Directorate of Health Affairs; from the Hematology Department (Mansory, Badawi), Faculty of Medicine, King Abdulaziz University; and from the Hematology Research Unit (Mansory, Badawi), King Fahd Medical Research Center, King Abdulaziz University, and from the Blood Transfusion Services Unit (Badawi), King Abdulaziz University Hospital, Jeddah, Kingdom of Saudi Arabia.

Objectives: To systematically review evidence on the prevalence of the JAK2V617F (JAK2) mutation and polycythemia vera (PV) among all blood donors, focusing on those with elevated hematocrit. Although blood donors are generally healthy, considering a preclinical stage of myeloproliferative neoplasm, especially in those with polycythemia, is crucial. Evidence on managing these donors is limited.

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Introduction: Myeloproliferative neoplasms (MPN) are associated with clonal hematopoiesis, genomic instability, hemostasis dysregulation, and immune response. Classic BCR-ABL1 negative myeloproliferative neoplasms (BCR-ABL1 negative MPN), including polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF), are frequently associated with somatic abnormalities in JAK2, CALR, and MPL. Mutant clones induce an inflammatory immune response leading to immuno-thrombosis.

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Article Synopsis
  • High-molecular risk (HMR) mutations, such as ASXL1 and IDH, are linked to poorer outcomes in myelofibrosis (MF) patients, particularly when combined with lower levels of the JAK2V617F variant allele frequency (VAF).
  • Analysis of 124 MF patients showed that HMR mutations significantly impacted prognosis for those with lower JAK2V617F VAF, while this effect was not observed in patients with higher VAF levels.
  • The study's findings indicate that having both HMR mutations and a lower JAK2V617F VAF (≤50%) serves as a strong independent risk factor for survival, improving existing prognostic models and prompting the need for further
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Objective: To analyze the clinical characteristics and occurrence of thrombotic/bleeding events of patients with myeloproliferative neoplasm (MPN), and explore the main influencing factors, and create a risk prediction.

Methods: The clinical data of 126 MPN patients with fusion gene negative in the Department of Hematology of Gansu Provincial Hospital from January 2016 to September 2021 were collected, and their clinical characteristics, occurrence of thrombotic/bleeding events and main influencing factors were analyzed and summarized retrospectively. Then, a risk prediction model for thrombotic/bleeding events in MPN patients was constructed.

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Myeloproliferative neoplasms: young patients, current data and future considerations.

Ann Hematol

September 2024

Department of Hematology, Guy's and St Thomas' National Health Service Foundation Trust, London, UK.

Article Synopsis
  • Philadelphia-negative chronic myeloproliferative neoplasms (MPNs) primarily affect older adults, with fewer cases seen in children and young adults, leading to less knowledge about their symptoms and treatment in these younger demographics.
  • Diagnosis in younger patients can be challenging due to the rarity of specific genetic mutations and differences in blood counts compared to adults.
  • Effective management of young MPN patients is complex due to their unique needs and longer life expectancies, highlighting the necessity for collaboration between pediatricians and adult hematologists to develop better treatment protocols.
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