Clinical lymphoma, myeloma & leukemia · 2021
Analysis of Common Driver Mutations in Philadelphia-Negative Myeloproliferative Neoplasms.
СтатьяНаблюдательное исследованиеПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод пока не подготовлен
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Alshemmari Salem H, Rajan Reshmi, Ameen Reem, Almazyad Mazyad
Аннотация
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.
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.
Предметные рубрики MeSH
AdolescentAdultBiomarkers, TumorCalreticulinChildChild, PreschoolDNA Mutational AnalysisExonsFemaleHumansIncidenceInfantInfant, NewbornJanus Kinase 2KuwaitMaleMiddle AgedMolecular EpidemiologyMutationPolycythemia VeraPrimary MyelofibrosisReceptors, ThrombopoietinRetrospective StudiesThrombocythemia, EssentialYoung Adult