真性红细胞增多症患者生存现状及基因突变分析

谷文静; 付荣凤; 鞠满凯; 孙婷; 刘晓帆; 薛峰; 李慧媛; 池颖; 杨仁池; 张磊

doi:10.13201/j.issn.1004-2806.2019.09.006

真性红细胞增多症患者生存现状及基因突变分析

- 中国医学科学院血液病医院(中国医学科学院血液学研究所), 实验血液学国家重点实验室, 国家血液病临床医学研究中心, 天津市血液病基因治疗研究重点实验室, 中国医学科学院血液病基因治疗重点实验室(天津, 300020)
基金项目:
国家自然科学基金(No:81470302、81600099、81500084)

京津冀基础研究合作专项(No:18JCZDJC44600、H2018206423)

天津市自然基金(No:18JCQNJC11900)

中国医学科学院医学与健康科技创新工程(No:2016-I2M-1-018、2017-I2M-1-015)

中国医学科学院血液病基因治疗重点实验室(No:2017PT31047、2018PT31038)

详细信息

通讯作者: 张磊,E-mail:zhanglei1@ihcams.ac.cn

中图分类号: R555.1

收稿日期: 2019-06-30

Survival and genetic analysis of patients with polycythemia vera

- Institute of Hematology and Blood Diseases Hospital, CAMS&PUMC, the State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Tianjin Laboratory of Blood Disease Gene Therapy, CAMS Key Laboratory of Gene Therapy for Blood Diseases, Tianjin, 300020, China

More Information

Corresponding author: ZHANG Lei, E-mail: zhanglei1@ihcams.ac.cn

Received Date: 30 June 2019

摘要

摘要: 目的:了解真性红细胞增多症(PV)患者的生存现状及基因突变情况。方法:对409例PV患者的临床资料进行回顾性分析。结果:409例患者中,男217例,女192例,中位发病年龄56岁。有血栓栓塞事件者149例(36.4%),有出血事件者46例(11.2%)。COX回归分析示女性、年龄>60岁及心血管疾病危险因素为血栓栓塞事件的独立危险因素。生存分析显示高危组血栓栓塞风险显著高于低、中危组(Log-rank=23.943,P<0.001),且高危组骨髓纤维化/白血病转化率显著高于低危组(Log-rank=4.857,P=0.028)。初诊时血红蛋白160~254 g/L,骨髓检查示24.9%的患者粒、红、巨三系增生。JAK2-V617F基因突变阳性者362例(89.6%),且提示不良预后,另检测出JAK2-EXON12、TP53、TET2等与疾病相关的少见突变。409例患者经干扰素、羟基脲、干扰素联合羟基脲及非降细胞治疗后,5年无骨髓纤维化/白血病生存率分别为 93.0%、79.6%、90.3%、78.5%,且降细胞治疗组无骨髓纤维化/白血病生存率显著高于非降细胞治疗组(Log-rank=4.563,P=0.033)。结论:对于高龄、有心血管疾病危险因素的PV患者,应尽早进行预防栓塞治疗。JAK2-V617F突变与PV不良预后相关。对于高危PV患者,应积极行降细胞治疗以延缓向骨髓纤维化/白血病进展。
- 真性红细胞增多症 /
- 回顾性分析 /
- 生存现状 /
- 基因突变
Abstract: Objective:To investigate the survival and genetic features in patients with polycythemia vera (PV).Method:The clinical data of 409 patients with PV were retrospectively analyzed.Result:Among the 409 patients,217 were males and 192 were females with median age of 56 years old.Thromboembolic events occurred in 149 cases (36.4%) and bleeding events occurred in 46 cases (11.2%).Cox regression revealed that female,old age and cardiovascular risk factors were independent risk factors of thromboembolic events.Survival analysis showed patients in high-risk group were more likely to have thromboembolism than patients in low- and medium-risk group (Log-rank=23.943,P<0.001).There were also more patients in high-risk group suffering MF/AML progression compared with patients in low-risk group (Log-rank=4.857,P=0.028).Hemoglobin level was 160 to 254 g/L at initial diagnosis.Bone marrow examination showed that 24.9% of the patients had pancytosis.The JAK2-V617F mutation was positive in 362 cases (89.6%) and was proved to be related with poor prognosis.JAK2-EXON12,TP53,TET2 and other rare mutations were also detected.The 5-year survival of no post-PV MF/AML was 93.0% after treatment with interferon,79.6% with hydroxyurea,90.3% with combined treatment and 78.5% with no cytoreductive treatment.The survival rate of no post-PV MF/AML was significantly higher with cytoreductive treatment than no cytoreductive treatment (Log-rank=4.563,P=0.033).Conclusion:Patients in old age or with cardiovascular risk factors should be treated for prevention of thromboembolism as early as possible.JAK2-V617F mutation is associated with poor prognosis in patients with PV.Cytoreductive treatment is recommendedfor high-risk group patients to delay MF/AML progression.
- polycythemia vera /
- retrospective analysis /
- survival /
- genetic features

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