SF3B1基因突变骨髓增生异常综合征患者红系造血特征分析

Analysis of erythroid lineage features in myelodysplastic syndromes patients with SF3B1 gene mutation

目的:观察剪接因子3B亚单位1(SF3B1)基因突变的骨髓增生异常综合征(MDS)患者红系造血特征。方法:以2018年8月至2021年11月初诊126例MDS患者为研究对象,根据是否存在SF3B1基因突变分为SF3B1突变组与SF3B1野生组,比较2组之间红细胞参数:外周血中红细胞(RBC)、血红蛋白(HGB)、平均红细胞体积(MCV)、平均红细胞血红蛋白量(MCH)、平均红细胞血红蛋白浓度(MCHC)、红细胞分布宽度标准差(RDW-SD)、红细胞分布宽度变异系数(RDW-CV)、骨髓中红系比例、粒红比的差别,并比较SF3B1突变组与同期100例健康体检者(对照组)外周血各参数的差别。分析SF3B1突变组与SF3B1野生组HGB与MCV、RDW-SD、RDW-CV的相关性。结果:(1)SF3B1突变组HGB低于SF3B1野生组(P<0.05),而RDW-SD、RDW-CV高于SF3B1野生组(P<0.01),2组RBC、MCV、MCH、MCHC比较差异无统计学意义(P>0.05)。SF3B1突变组RBC、HGB、MCHC均明显低于对照组(P<0.01),而MCV、MCH、RDW-SD、RDW-CV均明显高于对照组(P<0.001)。(2)SF3B1突变组与SF3B1野生组骨髓中红系比例无明显差异[(39.8080±17.6364)%vs(33.8000±18.2813)%,P=0.135],粒红比无明显差异[1.02(0.04~4.29)vs 1.14(0.11~154),P=0.615]。(3)SF3B1突变组HGB与MCV、RDW-SD、RDW-CV均无关,SF3B1野生组HGB与MCV无关,与RDW-SD、RDW-CV呈负相关。结论:SF3B1基因突变的MDS患者红细胞存在更高的异质性;无SF3B1基因突变的MDS患者HGB水平与红细胞变异程度呈负相关。

Objective:To investigate the erythroid lineage features in myelodysplastic syndromes(MDS)patients with SF3B1 gene mutation.Methods:One hundred and twenty-six newly diagnosed MDS patients between August 2018 and November 2021 were enrolled.They were divided into two groups,mutational SF3B1 group and wild-type SF3B1 group.The red blood cell(RBC)related parameters including RBC,hemoglobin(HGB),mean corpuscular volume(MCV),mean corpuscular hemoglobin(MCH),mean corpuscu larhemoglobin concentration(MCHC),standard deviation of red blood cell distribution width(RDW-SD),coefficient of variation of red blood cell distribution width(RDW-CV)in peripheral blood(PB),erythroid percentage and G/E ratio in bone marrow(BM)were compared between two groups.PB parameters were also compared between mutational SF3B1 group and one hundred healthy controls(HC).The relationships between HGB and MCV,RDW-SD,RDW-CV were analyzed in mutational and wild-type SF3B1 groups respectively.Results:(1)Compared with wild-type SF3B1 group,mutational SF3B1 group had lower HGB(P<0.05),higher RDW-SD,RDW-CV(P<0.01).There was no significant difference in RBC,MCV,MCH,MCHC between two groups.Compared with HC,mutational SF3B1 group had lower RBC,HGB,MCHC(P<0.01)and higher MCV,MCH,RDW-SD,RDW-CV(P<0.001).(2)Erythroid percentage was not significantly different between mutational and wild-type SF3B1 groups([39.8080±17.6364]%vs[33.8000±18.2813]%,P=0.135).G/E ratio was neither significantly different between these two groups(1.02[0.04-4.29]vs 1.14[0.11-154],P=0.615).(3)In mutational SF3B1 group,HGB had no relationships with MCV,RDW-SD,RDW-CV.In wild-type SF3B1 group,HGB was negatively correlated with RDW-SD and RDW-CV while not significantly correlated with MCV.Conclusion:RBC showed larger heterogeneity in MDS patients with SF3B1 mutation than without.HGB may be negatively correlated with RBC diversity in MDS patients without SF3B1 mutation.