患者分子遗传学特征:337例MDS-E患者进行了二代测序检测,基因突变图谱见图1。其中检出率较高的依次为U2AF1(82例,24.3%)、TP53(50例,14.8%)、ASXL1(49例,14.5%)、SF3B1(40例,11.9%)、RUNX1(33例,9.8%)、DNMT3A(31例,9.2%)、TET2(27例,8.0%)和BCOR(25例,7.4%)。与MDS-NE患者相比,MDS-E患者多打击TP53[42例(12.5%)对78例(7.1%),P=0.002]、BCOR[25例(7.4%)对41例(3.7%),P=0.005]、STAG2[15例(4.5%)对26例(2.4%),P=0.044]基因突变检出率显著增高,ASXL1[49例(14.5%)对225例(20.5%),P=0.015]、SRSF2[8例(2.4%)对64例(5.8%),P=0.011]、ZRSR2[1例(0.3%)对34例(3.1%),P=0.004]基因突变检出率显著减低(图2)。. The gene discussed is ASXL1; the disease is myelodysplastic syndrome.