Molecular Aberrations Among Patients with Myeloproliferative Neoplasms: Focus on Myelofibrosis

اهي مجموعه من اضطرابات الخلايا الجذعية الدموية التي تشمل تعدد الخلايا الخلفيه للاورام النخاعية .(MPN ) السلبية لكروموسوم فيلادلفيا.
الدراسه شملت 942 حاله نسبه 106 لكل 100.000 من السكان من 2007 ولغاية 2019. متوسط العمر 55 سنة ، والأغلبية من الذكور . وجدت الدراسة أن أكثر الأنواع شيوعا كان Essential thrombocythemia ,تليها polycythemia vera. وكما وجدت الدراسه أن 18% من المرضى قد تم تشخيصهم بعد حدوث اضطرابات تجلطيه شديده . وكما وجدت الدراسه أن غالبية الطفرات كانت في JAK2 (90%) ,تليها طفرة

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: A retrospective review of 942 MPN cases with a driver mutation from July 2007 to June 2019, examining their demographic, clinical, and laboratory attributes. Results: The annual incidence of MPN is 1.6 per 100,000 persons, and ET is the most common subtype. The median age of our cohort was 55 years and was predominantly male. We found that the most frequent gene mutation of MPN 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. Conclusions: 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.