慢性粒-单核细胞白血病与骨髓增生异常综合征的遗传学差异分析

Comparative genetic analysis between chronic myelomonocytic leukemia and myelodysplastic syndrome

目的探讨慢性粒-单核细胞白血病(CMML)和骨髓增生异常综合征(MDS)的遗传学差异。方法回顾性分析2012—2021年32例CMML患者和159例MDS的临床和实验室资料,比较CMML患者和MDS患者染色体核型、基因突变等方面的差异。结果与MDS患者相比,CMML患者血小板、白细胞计数、中性粒细胞数、单核细胞数、骨髓原始细胞比例、乳酸脱氢酶及β2微球蛋白更高(均P<0.05),染色体核型异常率更低(25.92%vs51.60%,P<0.05),总体基因突变率更高(85.7%vs60.00%,P<0.05)。按基因功能分类,CMML表观遗传学调控和信号通路调控的基因突变概率高于MDS(60.90%vs 36.00%,38.10%vs4.28%,均P<0.05)。结论与MDS相比,CMML具有高代谢特征,更低染色体异常率,更高基因突变率。

Objective To investigate the genetic differences between chronic myelomonocytic leukemia(CMML)and myelodysplastic syndrome(MDS).Methods The clinical and laboratory data of 32 CMML patients and 159MDS patients from 2012 to 2021 were retrospectively analyzed.Mann-Whitney U test and chi-square test were used to analyze the differences in clinical laboratory indicators between CMML patients and MDS patients.Results Compared with MDS,CMML patients had higher platelet count(101.50×10~9 vs.55.00×10~9),higher white blood cell count(8.23×10~9/L vs.2.70×10~9/L),higher neutrophil count(4.15×10~9/L vs.2.00×10~9/L),higher monocyte count(1.70×10~9/L vs.0.20×10~9/L),higher proportion of bone marrow blasts(7.25%vs.3.50%),higher lactate dehydrogenase(341.00 U/L vs.203.00 U/L),and higherβ2 microglobulin(2.99μg/L vs.1.85μg/L),with the significant differences(all P 0.05).The abnormal karyotype rate of CMML(25.92%)was significantly lower than that of MDS(25.92%vs.51.60%,P 0.05).The overall gene mutation rate of CMML was significantly higher(85.71%vs.60.00%,P 0.05).According to gene function classification,the mutation rate of genes involved in epigenetic regulation and signal pathway regulation in CMML was higher than those in MDS(60.90%vs.36.00%,38.10%vs.4.28%,all P 0.05).Conclusions Compared with MDS,CMML has higher metabolic characteristics,lower chromosomal abnormality rate and higher gene mutation rate.