Hematopoietic Stem Cell Heterogeneity in JAK2 V617F+ Essential Thrombocythemia

In this study, we explored the transcriptome of hematopoietic stem cells (HSCs) and megakaryocyte-erythroid progenitors (MEPs) in JAK2 V617F+ PV and ET and found that distinctive gene expression patterns within MPN subtypes begin at the HSC stage. HSCs from ET exhibited prominent megakaryocyte (Mk)-lineage priming. The differentially expressed genes (DEGs) indicated that cellular processes and signaling pathways in HSCs and MEPs from healthy donors (HDs), PV and ET patients are differentially modulated

本研究针对JAK2 V617F阳性的真性红细胞增多症（Polycythemia Vera, PV）与原发性血小板增多症（Essential Thrombocythemia, ET）患者的造血干细胞（hematopoietic stem cells, HSCs）及巨核细胞-红系祖细胞（megakaryocyte-erythroid progenitors, MEPs）的转录组开展分析，发现骨髓增殖性肿瘤（Myeloproliferative Neoplasms, MPN）不同亚型的特征性基因表达模式早在造血干细胞阶段便已显现。ET患者的造血干细胞表现出显著的巨核细胞系谱系预置倾向。差异表达基因（differentially expressed genes, DEGs）分析结果显示，健康供者（healthy donors, HDs）、PV患者与ET患者的造血干细胞及巨核细胞-红系祖细胞的细胞过程与信号通路的调控模式存在显著差异。