ASXLl基因突变在原发性血小板增多症中的临床意义

The clinical significance of ASXLl gene mutation in primary thrombocytosis

目的检测原发性血小板增多症(ET)患者ASXL1基因突变频率,比较ASXLl基因突变与单基因JAK2V617F、CALR、MPL515W突变及三阴性患者临床指标的差异性。方法检测295例ET患者CALRexon9、ASXLlexon12、MPLexon10和JAK2V617F突变频率。结果295例患者总基因突变检出率为72.5%(214/295),ASXLl、JAK2V617F、MPL及CALR基因突变发生率分别为5.8%(17/295)、39.7%(117/295)、2.7%(8/295)及29.8%(88/295);ASXL1突变以双基因突变为主5.4%(16/295),包括ASXLl/CALR(n=11)、ASXLl/JAK2V617F(n=3)及ASXLl/MPL(n=1)。与单基因JAK2V617F、CALR、MPL突变及三阴性组相比,ASXLl突变组的ET患者有更高的血小板水平及较低的血红蛋白(P<0.05),但在中位年龄及外周白细胞计数方面无明显差异(P>0.05)。结论ASXLl基因在ET患者中突变率较高,与其他单基因及三阴性组相比,具有更高的血小板计数及较低的血红蛋白水平。

Objective:To explore ASXLl gene mutations in patients with essential thrombocytosis(ET),and to compare the differences of clinical characteristics between the mutation of ASXLl gene and the clinical parameters of patients with single geneJAK2V617F,CALR,MPL515W and triple-negative mutation.Methods:The mutations frequency of CALR gene at exon 9,ASXL1 gene at exon 12,MPL gene at exon 10 and JAK2V617F in 295 ET patients were detected.Results:The detection rate of total gene mutation in 295 patients was 72.5%(214/295),and the gene mutation rate of asxll,JAK2V617F,MPL and call genes were 5.8%(17/295),39.7%(117/295),2.7%(8/295)and 29.8%(88/295)respectively,5.4%(16/295)of patients had double mutations,including CALR and ASXLl(n=11),ASXLl and JAK2V617F(n=2),MPLand CALR(n=1)and ASXL1and MPL(n=1).Compared with single gene JAK2V617F,CALR,MPL515W and triple-negative mutation,significant difference was found on hemoglobin levels and platelet counts between CALRand ASXL1 mutations and single mutation(P<0.05),but there was no significant difference between median age and peripheral leukocyte count(P>0.05).Conclusion:ASXLl gene mutation was higher in ET patients.Compared with other single gene and three negative groups,the existence of ASXL1 gene mutations are significantly associated with lower hemoglobin level and higher platelet count.