贵州地区124例BCR-ABL阴性骨髓增殖性肿瘤患者的临床分析

Study on the clinical features of 124 patients with BCR-ABL negative myeloproliferative neoplasms in Guizhou province

目的探讨驱动突变对贵州地区BCR-ABL阴性骨髓增殖性肿瘤(myeloproliferative neoplasms,MPNs)患者临床特征的影响及血栓栓塞事件的危险因素。方法回顾性分析贵州地区124例BCR-ABL阴性MPNs患者的临床资料;使用Logistic回归分析血栓栓塞事件的危险因素。将患者的血清铁蛋白(serum ferritin,SF)与年龄、外周血细胞成分、乳酸脱氢酶(lactate dehydrogenase,LDH)进行相关性分析。结果 (1)伴JAK2V617F突变的真性红细胞增多症(polycythemia vera,PV)患者白细胞计数(white blood cell,WBC)与血小板计数(platelet,PLT)高于未突变者,其危险分层更高;伴JAK2V617F突变的原发性血小板增多症(essential thrombocythemia,ET)患者WBC、血红蛋白(hemoglobin,Hb)、红细胞比容(hematocrit,HCT)高于CALR突变者,且Hb、HCT、血栓栓塞事件发生率也高于3种基因均阴性者;CALR突变ET患者PLT明显高于JAK2V617F突变者及3种基因突变均阴性者。(2)单因素分析提示,ET患者年龄≥60岁、有心血管危险因素、伴JAK2V617F突变者更易发生血栓栓塞事件;多因素分析发现年龄≥60岁是导致血栓栓塞事件发生的独立危险因素。(3)MPNs患者的SF平均水平高于健康人群(原发性骨髓纤维化(primary myelofibrosis,PMF)患者表现尤为明显)。(4)LDH升高的ET患者WBC、PLT显著高于LDH正常组,且危险度分层较高。结论 (1)驱动突变对MPNs患者临床特征、预后评估的影响存在差异;(2)高龄是MPNs患者发生血栓栓塞的独立危险因素;(3)MPNs患者SF升高和ET患者LDH升高可能与疾病预后不良有关,尚待深入研究。

Objective To investigate the relationship between the driver gene mutations and clinical characteristic of BCR-ABL negative myeloproliferative neoplasms（ MPNs）,and explore the risk factors of thrombocytosis.Methods The clinical data of 124 BCR-ABL negative MPNs patients with BCR-ABL negative was reviewed retrospectively from October,2012 to April,2017 in Guizhou province,and analyzed by logistic regression to get the risk factors of thrombocytosis. The serum ferritin（ SF） in these patients was analyzed with age,peripheral blood cell and LDH. Results 1） In polycythemia vera（ PV）,patients with JAK2 V617 F mutation positive was associated with high white blood cells,platelet counts and risk stratification. In essential thrombocythemia（ ET）,WBC,Hb and HCT were higher in patients with JAK2 V617 F mutation positive but not in CALR mutation positive. Moreover,Hb and HCT,and rate of thrombocytosis were higher in ET with JAK2 V617 F mutation positive than those with triple-negative. The PLT was higher in ET patients with CALR mutation than that in other patients. 2） Patient with ET（ complicated with older than 60 year-old,cardiovascular risk factors and harbored JAK2 V617 F mutation） trended to a higher rate of thrombosis. By multivariate analysis,age（ ≥60） was independent risk of thrombosis. 3） The SF level in MPNs（ especially in PMF） was higher than that in healthy people. 4） The WBC and PLT and risk stratification were increased in ET patients with high LDH level. Conclusion1） The significant difference of the effects of driving mutation on clinical features and prognosis of MPNs patients is found. 2） Elderly age is a risk factor of thrombocytosis. 3） The high level of SF（ in MPNs） and LDH（ in ET）might be associated with poor prognosis,which needs further investigation.