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Analysis of Common Driver Mutations in Philadelphia-Negative Myeloproliferative Neoplasms
Salem H Alshemmari1, Reshmi Rajan2, Reem Ameen3
1Department of Medicine, Faculty of Medicine, Kuwait University, Jabriya, Kuwait.
Clinical Lymphoma, Myeloma & Leukemia
|April 16, 2021
Summary
Philadelphia-negative myeloproliferative neoplasms (MPNs) are rare blood disorders. The JAK2V617F mutation is the most common driver mutation in MPN patients, often presenting with thrombosis.
Area of Science:
- Hematology
- Oncology
- Genetics
Background:
- Philadelphia-negative myeloproliferative neoplasms (MPNs) encompass polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF).
- These are hematopoietic stem cell disorders with significant clinical implications.
Purpose of the Study:
- To investigate the prevalence and characteristics of driver mutations in MPN patients in Kuwait.
- To analyze the demographic, clinical, and laboratory features associated with these mutations.
Main Methods:
- Retrospective review of 942 MPN cases with driver mutations.
- Data collected from July 2007 to June 2019.
Main Results:
- The JAK2V617F mutation was identified in 90% of cases, representing the predominant driver mutation.
- Essential thrombocythemia (ET) was the most common MPN subtype.
- Thrombotic events occurred in 18.7% of the cohort.
Conclusions:
- The JAK2V617F mutation is the primary driver in the majority of Philadelphia-negative MPN patients.
- Thrombosis is a frequent initial presentation of these rare hematologic malignancies.
