【摘要】 目的:分析88例骨髓增殖性疾病(myeloproliferative neoplasm,MPN)患者的临床资料,比较原发性骨髓纤维化前期(prefibrotic primary myelofibrosis,pre-PMF)与明显的原发性骨髓纤维化(overt-primary myelofibrosis,overtPMF)、原发性血小板增多症(essential thrombocythemia,ET)患者的临床表现区别。方法 :收集我院2015年1月至2018年1月连续诊断的88例MPN患者的临床相关参数(包括诊断分型、血常规检测结果、脾肿大状况、骨髓巨核细胞数和纤维化程度、相关基因突变等),进行比较分析。结果:连续纳入88例MPN患者的中位年龄为61岁(20～88岁),有32例(36%)为≥65岁的老年人,46例(52%)为男性,22例(25%)出现脾肿大;检出JAK2 V617F突变者为51例(58%),CALR突变者为5例(6%),MPL突变者为2例(2%),三阴性者为30例(34%)。88例患者分型诊断为真性红细胞增多症(polycythemia vera,PV)者共20例;ET为23例;PMF共45例,其中pre-PMF为23例(占PMF的51%),overt-PMF为22例(占49%)。在overt-PMF患者中,CALR基因突变阳性率高达18%(4/22)。pre-PMF患者的临床症状比overt-PMF患者轻,其出现血红蛋白含量和血小板计数低下的比例及平均乳酸脱氢酶水平均比overt-PMF患者低(P值分别为0.048、0.034、0.037)。pre-PMF患者与ET患者的临床表现相似,而pre-PMF患者中出现脾肿大的百分比及白细胞增多的百分比高于ET患者(26%比4%,61%比17%,P值为0.043和0.007),且随访发现,ET患者的中位生存时间比pre-PMF患者长(前者未达,后者为94个月,P=0.038)。在pre-PMF中,三阴性患者又比JAK2突变患者的中位年龄小(59岁比62岁,P=0.030)、发生脾肿大例数多(4例比2例,P=0.017)。结论:MPN是一组异质性克隆性血液系统疾病。pre-PMF与overt-PMF患者呈现出不同的临床表现和预后,区分两者很有必要。prePMF与ET的临床表现相似,但预后不同,ET预后较好,通过组织形态学诊断结合次要临床标准来区分两者极为重要。更多还原

【Abstract】 Objective: To explore the clinical features of 88 patients with myeloproliferative neoplasm(MPN) for analyzing the differences between prefibrotic primary myelofibrosis(pre-PMF), essential thrombocytopenia(ET), overt primary myelofibrosis(overt-PMF), and emphasizing the clinical importance of the diagnosis of pre-PMF. Methods: Eightyeight patients with MPN at our hospital from January 2015 to January 2018 were enrolled. The clinical data including disease classification, routine blood test, splenomegaly, megakaryocyte count, degree of fibrosis in bone marrow and related gene mutations were collected and analyzed. Results: Of the 88 patients, the median age at diagnosis was 61 years(range20-88 years), 32(36%) patients were over 65 years old, 46(52%) were male, and 22(25%) had splenomegaly. There were51 cases(58%) with JAK2 V617 F mutation, 5 cases(6%) with CALR mutation, 2 cases(2%) with MPL mutation, and 30 cases(34%) with triple negative. There were 20 cases of polycythemia vera(PV), 23 cases of ET, and 45 cases of primary myelofibrosis(PMF), including 23 cases of pre-PMF(51% of PMF) and 22 cases of overt-PMF(49% of PMF). Among all the patients with overt-PMF, the mutation rate of CALR gene was as high as 18%(4/22). Clinical manifestations of prePMF is milder than that of overt-PMF, with a lower ratio of low hemoglobin and lower platelet count, and a lower mean lactic acid dehydrogenase(P values of 0.048, 0.034, 0.037, respectively). The clinical manifestations of patients with prePMF were similar to those of patients with ET, however, the former had a higher proportion of splenomegaly and leukocytosis than the latter(P=0.043 and 0.007). Follow-up showed that patients with ET had longer survival than patients with pre-PMF(P=0.038). In patients with pre-PMF, triple-negative patients had a lower median age and greater number of splenomegaly than patients with JAK2 mutation(P =0.030 and 0.017). Conclusions: MPN is a group of hematological diseases with heterogeneous clonality. Different clinical manifestations and prognosis are presented in patients with pre-PMF and patients with overt-PMF, and it is necessary to distinguish the two diseases. The clinical manifestations of prePMF and ET are similar, but the prognosis is different. It is extremely important to distinguish the two diseases by histomorphological diagnosis combined with secondary clinical criteria.更多还原