Ph阴性骨髓增殖性肿瘤中ASXL1与CALR突变共存的检测及临床意义
发布时间：2018-10-11 15:04
【摘要】：目的:研究原发性血小板增多(ET)和原发性骨髓纤维化(PMF)患者ASXL1与CALR基因突变共存情况,比较其与单基因突变及突变阴性患者部分临床参数间的差异性。方法:采用基因组DNA-PCR扩增产物直接测序法检测263例ET患者及29例PMF患者ASXL1基因12号外显子、CALR基因9号外显子和MPL基因10号外显子突变;采用等位基因特异性PCR检测JAK2V617F突变情况。结果:292例患者总的突变检出率为72.6%(212/292),ASXL1、CALR、JAK2V617F及MPL基因突变发生率分别为5.8%、30.5%、39.0%及2.4%;5.1%(15/292)的患者同时携带双基因突变,包括ASXL1/CALR(n=11)、ASXL1/JAK2V617F(n=2)、MPL/CALR(n=1)及ASXL1/MPL(n=1),其中ASXL1/CALR突变共存发生率明显高于其它突变类型。与单基因CALR及JAK2V617F突变相比,CALR/ASXL1双突变组的ET患者有更高的血小板水平及较低的血红蛋白水平(P0.05),但在中位年龄及外周白细胞计数方面无明显差异(P0.05);与突变阴性组相比,CALR/ASXL1双突变ET组具有较低的白细胞数及血红蛋白水平,但具有较高的血小板水平,差异均有统计学意义(P0.05);在中位年龄方面差异无统计学意义(P0.05)。结论:ASXL1与CALR突变共存在ET患者中有较高的检出率,与单基因突变及突变阴性组相比,具有较高的血小板水平及较低的血红蛋白水平。
[Abstract]:Objective: to study the coexistence of ASXL1 and CALR gene mutations in patients with idiopathic thrombocytopenia (ET) and primary bone marrow fibrosis (PMF), and to compare the differences between ASXL1 and CALR gene mutations and some clinical parameters in patients with single gene mutation and negative mutation. Methods: the mutations of exon 12 of ASXL1 gene, exon 9 of CALR gene and exon 10 of MPL gene were detected by direct sequencing of genomic DNA-PCR amplification products in 263 patients with ET and 29 patients with PMF, and JAK2V617F mutations were detected by allele-specific PCR. Results: the total mutation rate of 292 patients was 72.6% (212 / 292). The mutation rates of ASXL1,CALR,JAK2V617F and MPL were 5.80.50% and 2.45.1% (15 / 292), respectively, which included ASXL1/CALR (nnn11), ASXL1/JAK2V617F (N2), MPL/CALR (nnt1) and ASXL1/MPL (nnt1). The incidence of ASXL1/CALR mutation was significantly higher than that of other mutation types. Compared with single gene CALR and JAK2V617F mutation, ET patients with CALR/ASXL1 double mutation had higher platelet level and lower hemoglobin level (P0.05), but there was no significant difference in median age and peripheral white blood cell count (P0.05), and compared with mutation negative group, ET patients had higher platelet level and lower hemoglobin level (P0.05). , CALR/ASXL1 double mutation ET group had lower leukocyte count and hemoglobin level. But has the higher platelet level, the difference all has the statistical significance (P0.05), has no statistical significance in the median age aspect (P0.05). Conclusion: the detection rate of ASXL1 and CALR mutation is higher in ET patients. Compared with single gene mutation and mutation negative group, it has higher platelet level and lower hemoglobin level.
【作者单位】： 南京医科大学附属常州市第二人民医院血液科;苏州大学附属第一医院血液科;常州市第三人民医院血液科;
【基金】：国家自然科学基金青年基金(81500103) 常州市科技局国际科技合作项目(CZ20140018) 常州市高层次卫生人才培养工程(2016CZLJ027)
【分类号】：R733.3
本文编号：2264498
[Abstract]:Objective: to study the coexistence of ASXL1 and CALR gene mutations in patients with idiopathic thrombocytopenia (ET) and primary bone marrow fibrosis (PMF), and to compare the differences between ASXL1 and CALR gene mutations and some clinical parameters in patients with single gene mutation and negative mutation. Methods: the mutations of exon 12 of ASXL1 gene, exon 9 of CALR gene and exon 10 of MPL gene were detected by direct sequencing of genomic DNA-PCR amplification products in 263 patients with ET and 29 patients with PMF, and JAK2V617F mutations were detected by allele-specific PCR. Results: the total mutation rate of 292 patients was 72.6% (212 / 292). The mutation rates of ASXL1,CALR,JAK2V617F and MPL were 5.80.50% and 2.45.1% (15 / 292), respectively, which included ASXL1/CALR (nnn11), ASXL1/JAK2V617F (N2), MPL/CALR (nnt1) and ASXL1/MPL (nnt1). The incidence of ASXL1/CALR mutation was significantly higher than that of other mutation types. Compared with single gene CALR and JAK2V617F mutation, ET patients with CALR/ASXL1 double mutation had higher platelet level and lower hemoglobin level (P0.05), but there was no significant difference in median age and peripheral white blood cell count (P0.05), and compared with mutation negative group, ET patients had higher platelet level and lower hemoglobin level (P0.05). , CALR/ASXL1 double mutation ET group had lower leukocyte count and hemoglobin level. But has the higher platelet level, the difference all has the statistical significance (P0.05), has no statistical significance in the median age aspect (P0.05). Conclusion: the detection rate of ASXL1 and CALR mutation is higher in ET patients. Compared with single gene mutation and mutation negative group, it has higher platelet level and lower hemoglobin level.
【作者单位】： 南京医科大学附属常州市第二人民医院血液科;苏州大学附属第一医院血液科;常州市第三人民医院血液科;
【基金】：国家自然科学基金青年基金(81500103) 常州市科技局国际科技合作项目(CZ20140018) 常州市高层次卫生人才培养工程(2016CZLJ027)
【分类号】：R733.3
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