Analysis of Common Driver Mutations in Philadelphia-Negative Myeloproliferative Neoplasms
| Autor: | Reshmi Rajan, Reem Ameen, Salem H. Alshemmari, Mazyad Jamal Almazyad |
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| Rok vydání: | 2020 |
| Předmět: |
Oncology
Adult Male Cancer Research medicine.medical_specialty Adolescent DNA Mutational Analysis Gene mutation Exon Young Adult Polycythemia vera hemic and lymphatic diseases Internal medicine medicine Biomarkers Tumor Humans Myelofibrosis Child Polycythemia Vera Retrospective Studies Molecular Epidemiology Essential thrombocythemia business.industry Incidence Infant Newborn Infant Hematology Exons Janus Kinase 2 Middle Aged medicine.disease Thrombosis Kuwait Primary Myelofibrosis Child Preschool Cohort Mutation (genetic algorithm) Mutation Female business Calreticulin Receptors Thrombopoietin Thrombocythemia Essential |
| Zdroj: | Clinical lymphoma, myelomaleukemia. 21(7) |
| ISSN: | 2152-2669 |
| Popis: | Background Philadelphia-negative myeloproliferative neoplasms (MPNs) are a group of hematopoietic stem cell disorders that include polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF). This study examines the driver mutations among patients with MPNs in Kuwait. Patients and Methods This study was a retrospective review of 942 MPN cases with a driver mutation from July 2007 to June 2019 to examine their demographic, clinical, and laboratory attributes. Results The annual incidence of MPNs is 1.6 per 100,000 persons, and ET is the most common subtype. The median age of our cohort was 55 years, and the patients were predominantly male. We found that the most frequent gene mutation of MPNs in our cohort was the JAK2V617F mutation, which was present in 90% of cases, followed by the CALR exon 9, MPLW515L/K, and JAK2 exon 12 mutations. In our cohort, thrombotic events were observed in 18.7% of cases. Conclusion Although Philadelphia-negative MPNs are rare hematologic malignancies, thrombosis is a relatively common initial presentation. The JAK2V617F mutation was the driver mutation in the majority of patients with MPN. |
| Databáze: | OpenAIRE |
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