Ph陰性骨髓增殖性腫瘤中ASXL1與CALR突變共存的檢測及臨床意義
發(fā)布時間：2018-10-11 15:04
【摘要】：目的:研究原發(fā)性血小板增多(ET)和原發(fā)性骨髓纖維化(PMF)患者ASXL1與CALR基因突變共存情況,比較其與單基因突變及突變陰性患者部分臨床參數(shù)間的差異性。方法:采用基因組DNA-PCR擴增產物直接測序法檢測263例ET患者及29例PMF患者ASXL1基因12號外顯子、CALR基因9號外顯子和MPL基因10號外顯子突變;采用等位基因特異性PCR檢測JAK2V617F突變情況。結果:292例患者總的突變檢出率為72.6%(212/292),ASXL1、CALR、JAK2V617F及MPL基因突變發(fā)生率分別為5.8%、30.5%、39.0%及2.4%;5.1%(15/292)的患者同時攜帶雙基因突變,包括ASXL1/CALR(n=11)、ASXL1/JAK2V617F(n=2)、MPL/CALR(n=1)及ASXL1/MPL(n=1),其中ASXL1/CALR突變共存發(fā)生率明顯高于其它突變類型。與單基因CALR及JAK2V617F突變相比,CALR/ASXL1雙突變組的ET患者有更高的血小板水平及較低的血紅蛋白水平(P0.05),但在中位年齡及外周白細胞計數(shù)方面無明顯差異(P0.05);與突變陰性組相比,CALR/ASXL1雙突變ET組具有較低的白細胞數(shù)及血紅蛋白水平,但具有較高的血小板水平,差異均有統(tǒng)計學意義(P0.05);在中位年齡方面差異無統(tǒng)計學意義(P0.05)。結論:ASXL1與CALR突變共存在ET患者中有較高的檢出率,與單基因突變及突變陰性組相比,具有較高的血小板水平及較低的血紅蛋白水平。
[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.
【作者單位】： 南京醫(yī)科大學附屬常州市第二人民醫(yī)院血液科;蘇州大學附屬第一醫(yī)院血液科;常州市第三人民醫(yī)院血液科;
【基金】：國家自然科學基金青年基金(81500103) 常州市科技局國際科技合作項目(CZ20140018) 常州市高層次衛(wèi)生人才培養(yǎng)工程(2016CZLJ027)
【分類號】：R733.3
本文編號：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.
【作者單位】： 南京醫(yī)科大學附屬常州市第二人民醫(yī)院血液科;蘇州大學附屬第一醫(yī)院血液科;常州市第三人民醫(yī)院血液科;
【基金】：國家自然科學基金青年基金(81500103) 常州市科技局國際科技合作項目(CZ20140018) 常州市高層次衛(wèi)生人才培養(yǎng)工程(2016CZLJ027)
【分類號】：R733.3
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