骨髓形态学对早期原发性骨髓纤维化与原发性血小板增多症的诊断价值

The Value of Bone Marrow Morphology in the Diagnosis of Prefibrotic Primary Myelofibrosis and Essential Thrombocythemia

目的探讨骨髓巨核细胞病理特征、临床特征及基因突变在早期原发性骨髓纤维化(pre-PMF)及原发性血小板增多症(ET)鉴别诊断中的价值。方法收集2010年1月至2020年12月68例既往根据2008版世界卫生组织(WHO)骨髓增生性肿瘤(MPN)诊断标准初诊为原发性骨髓纤维化(PMF)及ET的患者,依据2016年版WHO诊断标准对患者骨髓活检组织切片进行重新评估,并收集其实验室检查、临床特征、诊断分型及基因突变检测等结果进行统计分析。结果依据更新诊断标准重新分型后,ET患者23例,PMF患者45例,其中pre-PMF 22例(占PMF的49%),明显期原发性骨髓纤维化(overt-PMF)23例(占PMF的51%)。男性35例(51%)、女性33例(49%),年龄≥65岁患者24例(35%),白细胞增多35例(51%),贫血17例(25%),血小板降低10例(15%),脾肿大25例(37%)。pre-PMF组Ⅰ型、Ⅱ型、Ⅲ型、Ⅴ型巨核细胞百分比均高于ET组(P均<0.01),ET组Ⅳ型巨核细胞百分比高于pre-PMF组(P<0.01)。ET、pre-PMF和overt-PMF组的JAK2V617F、CALR、MPL驱动基因突变差异均无统计学意义(P>0.05)。结论ET和pre-PMF患者骨髓巨核细胞病理改变不同,结合JAK2V617F、CALR、MPL驱动基因突变及纤维增生分级及临床特征对于pre-PMF和ET具有鉴别诊断价值。

Objective To investigate the value of pathological features,clinical features and gene mutation of megakaryocytes in the differential diagnosis of prefibrotic primary myelofibrosis(pre-PMF)and essential thrombocythemia(ET).Methods From January 2010 to December 2020,68 newly diagnosed PMF and ET patients were collected from the hematology department of our hospital.According to the diagnostic criteria of the World Health Organization(WHO)for myeloproliferative neoplasm(MPN)in 2016,the bone marrow biopsy sections of patients were reevaluated,and the results of laboratory examination,clinical signs,diagnostic classification and gene mutation detection were collected for statistical analysis.Results After reclassification according to the updated diagnostic criteria,there were 23 cases of ET and 45 cases of PMF,including 22 cases of pre-PMF(49%of PMF)and 23 cases of overt-PMF(51%of PMF).Thirty-five patients(51%)were male,and 33(49%)were female.24 patients(35%)were aged≥65 years,35 patients(51%)with Leukocytosis,17 patients(25%)with anemia,10 patients(15%)with thrombocytopenia,and 25 patients(37%)with splenomegaly.The percentage of typeⅠ,Ⅱ,Ⅲand typeⅤmegakaryocytes in pre-PMF group was significantly higher than that in ET group(P all<0.01).The percentage of typeⅣmegakaryocytes in ET group was higher than that in pre-PMF group(P<0.01).In ET,pre-PMF and overt-PMF groups,there was no significant difference in the mutations of JAK2V617F,CALR and MPL(P>0.05).Conclusion The pathological changes and fibrosis characteristics of bone marrow megakaryocytes in patients with ET and pre-PMF were different.Combined with the mutations of JAK2V617F,CALR and MPL,it could have great value for differential diagnosis of pre-PMF and ET.