Abstract: 【Abstract】Objective Mutation screening was performed for genes including ASXL1,TET2, IDH1, IDH2, SETBP1, MPL515, JAK2exon12 and JAK2V617, in 135 polycythemia vera (PV) patients. The correlation between the genomics characteristics and disease progression of PV were evaluated. Methods DNA sequencing of ASXL1(Exon12)，TET2 (Exons 3-11)，IDH1(Exon4)，IDH2(Exon4)，SEPBP1(Exon4)， JAK2exon 12 and MPL515(Exon 10) genes were carried out. The burden of mutant JAK2V617F allele (V617F%) was evaluated by real-time PCR in the meantime. The significative gene mutations and clinical outcomes or PPMF was analyzed. To study the risk factors of PPMF, Kaplan–Meier estimation, Cox and Logistic regression were applied. Results ASXL1、TET2、IDH1、IDH2 were mutated in 7.69%（8/104）、5.26% (1/19) 、0.08% (1/120)、and 0.08% (1/121) JAK2 was mutated in 82.22%(111/135) , among them, the mutation rate of JAK2exon12 was 2.96%(4/135) and there were no mutation of MPL515 and SETBP1 in these PV patients. The mutation of ASXL1 was 31.82%（7/22）in PPMF patients. The result of Spearman’s analysis showed that ASXL1 is correlated with V617F% (r=0.298，P=0.002). The hemoglobin was lower in patients with ASXL1 mutation. The result of Kaplan-Meier survival analysis showed ASXL1 mutation (Log Rank =9.189, P=0.002), V617F% higher than 50% (Log Rank=9.339,P=0.002) and leukocyte count >25×109/L(Log Rank=4.191,P=0.041) were the risk factors for survival of no PPMF. ASXL1 mutation(β=3.47，Wald =3.932，OR=32.151，P=0.047， 95%CI=1.041-992.968), V617F% higher than 50% (β=-1.582，Wald =5.157，OR=0.206，P=0.023， 95%CI=0.052-0.805) were the risk-factors of PPMF by multiple-factor analysis of Logistic was used. Conclusion The ASXL1 mutation was higher in Chinese. The ASXL1 mutation was correlation with V617F%. The ASXL1 mutation may is the risk-factor of PPMF. ASXL1 mutation may promote the V617F% by some mechanism. The mutation in the TET2, IDH1, IDH2, SEPTBP1 and MPL were rare.

Key words: Polycythemia vera, genomics, disease progression