摘要目的:探讨FGFR3基因突变对初诊多发性骨髓瘤（MM）患者临床特征及预后的影响。方法:回顾性分析2016年1月至2023年2月江苏省人民医院血液科诊治的198例初诊MM患者，所有患者采用二代测序技术检测FGFR3基因突变，以及胞质轻链免疫荧光结合荧光原位杂交技术检测t（4；14）核型，使用Log-rank检验和Cox风险比例回归模型分析FGFR3基因突变与临床特征及预后的相关性。结果:198例患者中，28例（14.1%）伴FGFR3突变。与无FGFR3突变的患者相比，FGFR3突变的患者初诊时白蛋白水平明显降低（ P=0.012），β 2-微球蛋白水平明显升高（ P=0.014），t（4；14）阳性率增加（ P<0.001），R-ISS分期Ⅲ期比例更高（ P<0.001）。相较于无FGFR3突变患者，FGFR3突变患者具有更短的无进展生存（PFS）期（28个月对33个月， P=0.024）和总生存（OS）期（54个月对未达到， P=0.028）。联合FGFR3突变和t（4；14）进行生存分析，FGFR3突变和（或）t（4；14）阳性患者较FGFR3突变且t（4；14）均阴性组患者PFS期（30个月对38个月， P=0.012）和OS期（54个月对未达到， P=0.017）均缩短。Cox比例风险回归分析显示，FGFR3突变是影响初诊MM患者PFS及OS的独立危险因素。 结论:FGFR3基因突变与初诊MM患者预后不良显著相关。

abstractsObjective:This study aimed to investigate the influence of FGFR3 gene mutations on the clinical characteristics and prognosis of patients with newly diagnosed multiple myeloma (NDMM) .Methods:A total of 198 patients with NDMM admitted to the Department of Hematology in Jiangsu Province Hospital between January 2016 and February 2023 were retrospectively analyzed. Next-generation sequencing and cytoplasmic light chain immunofluorescence with fluorescence in situ hybridization were performed for all patients. The prognostic significance of FGFR3 mutation and clinical features were analyzed using the Log-rank test and Cox proportional hazards model.Results:Among 198 patients, 28 carried the FGFR3 gene mutation. These patients had significantly lower serum albumin levels, higher β 2-microglobulin levels, advanced Revised International Staging System stages, more frequent occurrence of t (4;14) , and shorter median progression-free survival (PFS) time (28 months vs 33 months, P=0.024) and overall survival (OS) time (54 months vs undefined, P=0.028) than patients without FGFR3 mutation. Additionally, patients carrying either FGFR3 mutation or t (4;14) had lower PFS (30 months vs 38 months, P=0.012) and OS (54 months vs undefined, P=0.017) than those without. The Cox proportional hazards model identified FGFR3 mutation as an independent risk factor for PFS and OS. Conclusion:FGFR3 gene mutation was an unfavorable independent prognostic predictor for NDMM.