8p11骨髓增殖综合征（EMS）是一种以FGFR1融合基因为特征的罕见血液肿瘤。该疾病进展迅速、预后恶劣，并且致病机制尚未完全明确。申请人前期筛选到10例FGFR1融和基因的病例，发现了1例新融合基因TFG-FGFR1，对进行了第二代靶向外显子捕获及重测序，结果显示其RUNX1基因发生突变，总体突变率达75%（6/8），提示RUNX1基因突变在EMS进展中发挥关键作用。本课题拟通过体外的细胞生物学和体内动物模型等手段来探讨FGFR1融合基因和RUNX1突变的协同致病作用及可能机制，并且探索靶向药物在此类疾病中的治疗效果。本课题将有助于阐明FGFR1融合基因和RUNX1突变的协同致病作用及其相关机制，为该类疾病的诊断和治疗提供理论和实验依据。

8p11 myeloproliferative syndrome (EMS) is a rare hematologic tumor characterized by FGFR1 fusion gene. Its progression is fast, prognosis is bad and pathogenesis is not clear. We collected 10 cases of FGFR1 fusion genes patients, and identified a novel fusion gene TFG-FGFR1. Second generations of target exon capture and resequencing results showed RUNX1 gene mutation, with a mutation rate of 75% (6/8). It is presumed that RUNX1 mutation could play key roles in EMS progression. Based on our previous work, we will explore the synergistic pathogenicity and possible mechanisms of FGFR1 fusion gene and RUNX1 mutation through cell biology in vitro and animal models in vivo. Furthermore, exploring the therapeutic effect of targeted drugs in EMS. This topic will help clarify the synergistic pathogenic effect of FGFR1 fusion gene and RUNX1 mutation and its related mechanisms, and provide theoretical and experimental evidence for the diagnosis and treatment of EMS.