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https://doi.org/10.3760/cma.j.issn.0253-2727.2022.02.004
Copy DOIJournal: Chinese Journal of Hematology | Publication Date: Feb 1, 2022 |
License type: CC BY |
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,P=0.040],RBC[8.19(5.88~10.94)×1012/L对7.14(4.11~10.64)×1012/L,P<0.001]和红细胞比容[64.1%(53.7%~79.0%)对59.6%(47.2%~77.1%),P=0.001]更高,而WBC[8.29(3.20~18.99)×109/L对12.91(3.24~38.30)×109/L,P<0.001]、PLT[313(83~1433)×109/L对470(61~2169)×109/L,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,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%,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(P=0.422)和无血栓生存(P=0.900)差异无统计学意义。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。
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