急性髓系白血病NRAS基因突变患者临床特征及细胞遗传学分析

Clinical characteristics and cytogenetic analysis of acute myeloid leukemia patients with NRAS mutation

目的探讨NRAS基因突变的急性髓系白血病(AML)患者临床特点及细胞遗传学特征。方法选取2020年1月至2022年8月在遵义市第一人民医院初诊的162例AML患者,对其临床资料进行回顾性分析,根据NRAS基因突变情况分为NRAS突变组和NRAS野生组,比较2组临床特征和细胞遗传学差异。结果162例初诊为AML的患者中,NRAS突变28例,NRAS野生134例。其中NRAS突变组外周白细胞计数(53.10×109/L)高于NRAS野生组(24.78×109/L),差异有统计学意义(P<0.05),2组血红蛋白、血小板计数及骨髓原幼细胞数差异无统计学意义(P>0.05)。NRAS突变组中25例出现共存基因突变,突变率为89.3%,最常见的共存突变基因为KRAS,突变率为28.6%,与NRAS野生组比,NRAS突变组更易获得KRAS突变(P<0.05);其他共存突变基因差异无统计学意义(P>0.05)。染色体分型比较发现,NRAS突变组的预后不良核型比例更高,达到23.1%,差异有统计学意义(P<0.05);预后良好核型和预后中等核型占比分别为7.7%和69.2%,差异无统计学意义(P>0.05)。结论AML患者NRAS基因突变发生率为17.3%,其更容易合并KRAS基因突变,在预后不良核型中占比较高。

Objective To investigate the clinical and cytogenetic characteristics of acute myeloid leukemia(AML)patients with NRAS mutations.Methods Newly diagnosed AML patients in our hospital from January 2020 to August 2022 were selected,and their clinical data were retrospectively analyzed.According to NRAS mutations,the patients were divided into NRAS mutation group and NRAS wild group.The clinical characteristics and cytogenetic differences were compared between the two groups.Results A total of 162 newly diagnosed AML patients were included in this study.There were 28 in NRAS mutation group and 134 in NRAS wild group.The peripheral white blood cell count of NRAS mutation group was significantly higher than that of NRAS wild type group(53.10×109/L vs 24.78×109/L,P<0.05).There were no significant differences in the hemoglobin level,platelet count or bone marrow blast cell count between the two groups(P>0.05).The coexisting gene mutation occurred in 25 patients(89.3%,25/28)in NRAS mutation group.The most common coexisting gene mutation was KRAS,with a mutation rate of 28.6%.Compared with NRAS wild group,NRAS mutation group was more likely to obtain KRAS mutations(P<0.05).There was no significant difference in other coexisting mutated genes between the two groups(P>0.05).The proportion of poor prognosis karyotype in the NRAS mutation group was 23.1%,which was significantly higher than that in NRAS wild group(P<0.05).The proportions of favorable and intermediate prognosis karyotypes in NRAS mutation group were 7.7%and 69.2%,respectively,which were not significantly different from those in NRAS wild group(P>0.05).Conclusion The incidence of NRAS mutation is 17.3%in AML patients in this study.Patients with NRAS mutation are more likely to have KRAS mutation and have a higher proportion of poor prognosis karyotype.