MỐI LIÊN QUAN GIỮA ĐẶC ĐIỂM TẾ BÀO, MÔ BỆNH HỌC TỦY XƯƠNG VỚI KIỂU ĐỘT BIẾN GENE Ở BỆNH NHÂN TĂNG TIỂU CẦU TIÊN PHÁT

Abstract

Objectives: To investigate the correlation of bone marrow aspiration and biopsy with genetic mutation profiles in patients with essential thrombocythemia. Methods: A retrospective, cross-sectional descriptive study was conducted on 208 patients diagnosed with ET at the National Institute of Hematology and Blood Transfusion according to the WHO diagnosis criteria (2016) from January 2022 to December, 2024. Results:The frequencies of JAK2, CALR, MPL mutations, and triple-negative status were 72.6%, 17.3%, 1.4%, and 8.7%, respectively. The median age was 58.1 (19 - 91) years. According to the International Prognostic Score for Essential Thrombocythemia (IPSET), 49.5% of patients were classified as high risk. The median platelet count was 1,126 (509 - 3.528) G/L, while the mean Platelet Distribution Width (PDW) and Mean Platelet Volume (MPV) were 20.4 ± 9.9% and 7.7 ± 1.9 fL, respectively. Significant differences were observed between the JAK2-mutated and triple-negative groups regarding age, IPSET risk category, PDW, MPV, leukocyte and platelet counts, bone marrow fibrosis, and megakaryocyte morphology and distribution. Conclusion: Marked megakaryocytic proliferation, variable cell size, hyperlobulated nuclei, small or scattered megakaryocyte clusters, and mild marrow fibrosis were common characteristics in patients with essential thrombocythemia. JAK2 mutation was the most frequent and was associated with a higher mean age, greater marrow hypercellularity, a higher proportion of hyperlobulated megakaryocytes, and a higher thrombotic risk compared with the triple-negative group.