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目的:比较伴JAK2 exon12与JAK2 V617F突变真性红细胞增多症（PV）患者的临床与实验室特征。方法:对2013年9月至2020年2月在中国医学科学院血液病医院就诊的570例符合WHO（2016）诊断分型标准且伴有JAK2基因突变的初诊PV患者进行回顾性分析，比较伴有JAK2 exon12与JAK2 V617F基因突变患者的临床与实验室特征。结果:①全部570例患者中，543例（95.3%）伴有单纯JAK2 V617F突变（JAK2 V617F组），24例（4.2%）伴有单纯JAK2 exon12突变（JAK2 exon12组），3例（0.5%）伴有JAK2 exon12与JAK2 V617F双突变。②27例伴有JAK2 exon12突变的患者中，JAK2 exon12突变类型包括缺失（10例，37.0%）、缺失伴插入（10例，37.0%）和错义突变（7例，25.9%）。③与JAK2 V617F组比较，JAK2 exon12组患者更年轻[中位年龄50（20~73）岁对59（25~91）岁，n P=0.040]，RBC[8.19（5.88~10.94）×10n 12/L对7.14（4.11~10.64）×10n 12/L，n P<0.001]和红细胞比容[64.1%（53.7%~79.0%）对59.6%（47.2%~77.1%），n P=0.001]更高，而WBC[8.29（3.20~18.99）×10n 9/L对12.91（3.24~38.30）×10n 9/L，n P<0.001]、PLT[313（83~1433）×10n 9/L对470（61~2169）×10n 9/L，n P<0.001]和红细胞生成素[0.70（0.06~3.27）U/L对1.14（0.01~10.16）U/L，n P=0.002]更低。④选取性别、年龄匹配的JAK2 exon12组与JAK2 V617F组各20例患者的骨髓活组织病理标本，JAK2 exon12组巨核细胞疏松成簇的患者比例显著低于JAK2 V617F组（40.0%对80.0%，n P=0.022），其他骨髓病理形态特性相似。⑤JAK2 exon12组、JAK2 V617F突变组的中位随访时间分别为30（4~83）个月、37（1~84）个月，两组总生存（n P=0.422）和无血栓生存（n P=0.900）差异无统计学意义。n 结论:JAK2 exon12突变患者较JAK2 V617F突变患者更为年轻，红系增生更显著，骨髓巨核细胞疏松成簇更少见。“,”Objective:To compare clinical and laboratory features between JAK2 exon12 and JAK2 V617F mutated polycythemia vera (PV) .Method:We collected data from 570 consecutive newly-diagnosed subjects with PV and JAK2 mutation, and compared clinical and laboratory features between patients with JAK2 exon12 and JAK2 V617F mutation.Results:543 (95.3%) subjects harboured JAK2 V617F mutation (JAK2 V617F cohort) , 24 (4.2%) harboured JAK2 exon12 mutations (JAK2 exon12 cohort) , and 3 (0.5%) harboured JAK2 exon12 and JAK2 V617F mutations. The mutations in JAK2 exon12 including deletion (n n=10, 37.0%) , deletion accompanied insertion (n n=10, 37.0%) , and missense mutations (n n=7, 25.9%) . Comparing with JAK2 V617F cohort, subjects in JAK2 exon12 cohort were younger [median age 50 (20-73) years versus 59 (25-91) years, n P=0.040], had higher RBC counts [8.19 (5.88-10.94) ×10n 12/L versus 7.14 (4.11-10.64) ×10n 12/L, n P<0.001] and hematocrit [64.1% (53.7-79.0%) versus 59.6% (47.2%-77.1%) ,n P=0.001], but lower WBC counts [8.29 (3.2-18.99) ×10n 9/L versus 12.91 (3.24-38.3) ×10n 9/L, n P<0.001], platelet counts [313 (83-1433) ×10n 9/L versus 470 (61-2169) ×10n 9/L, n P<0.001] and epoetin [0.70 (0.06-3.27) versus 1.14 (0.01-10.16) IU/L,n P=0.002] levels. We reviewed bone marrow histology at diagnosis in 20 subjects with each type of mutation matched for age and sex. Subjects with JAK2 exon12 mutations had fewer loose megakaryocyte cluster (40% versus 80%, n P=0.022) compared with subjects with JAK2 V617F. The median follow-ups were 30 months (range 4-83) and 37 months (range 1-84) for cohorts with JAK2 V617F and JAK2 exon12, respectively. There was no difference in overall survival (n P=0.422) and thrombosis-free survival (n P=0.900) .n Conclusions:Compared with patients with JAK2 V617F mutation, patients with JAK2 exon12 mutation were younger, and had more obvious erythrocytosis and less loose cluster of megakaryocytes.