58例原发性骨髓纤维化骨髓病理诊断分析

Primary myelofibrosis of bone marrow pathological diagnosis of 58 cases

目的探讨原发性骨髓纤维化(PMF)骨髓病理特征、免疫表型、诊断及鉴别诊断。方法对58例PMF患者的骨髓活检、网银染色、免疫组织化学、JAK2 V617F、CALR 9号外显子、MPL 10号外显子及BCR/ABL1融合基因检测结果进行回顾性分析。结果58例PMF患者骨髓活检造血组织容量在40%~90VOL%之间,15.5%(9/58)为PMF前期。79.3%(46/58)为PMF期。5.2%(3/58)为PMF伴骨硬化期。免疫组化证实粒系、红系及巨核三系分布情况,分子检测JAK2 V617F、CALR 9号外显子及MPL 10号外显子,70.7%(41/58)突变阳性。结论骨髓活检病理中以PMF期常见,鉴于PMF前期与ET及CML较难鉴别,诊断需结合临床表现、病理组织学特点、免疫组化及相关基因检测综合诊断。

Objective To explore the pathological characteristics,immunophenotypes,diagnosis,and differential diagnosis of primary myelofibrosis(PMF).Methods A retrospective analysis was conducted on the bone marrow biopsy,Gomori,immunohistochemistry,JAK2 V617F,CALR exon 9,MPL exon 10,and BCR/ABL1 fusion gene detection results of 58 patients with PMF.Results The volume of hematopoietic tissue in 58 cases of bone marrow biopsy ranged from 40%-90%,with 15.5%(9/58)being in the early PMF.79.3%(46/58)were in the overt PMF.5.2%(3/58)were in the overt PMF with osteosclerosis.Immunohistochemistry confirmed the distribution of granulosa,erythroid,and megakaryocyte lineages.Molecular detection of JAK2 V617F,CALR exon 9,and MPL exon 10 showed positive mutations in 70.7%(41/58).Conclusion Overt PMF is a common stage in bone marrow biopsy.Considering that it is difficult to distinguish early PMF from essential thrombocythemia and chronic myeloid leukemia,the diagnosis needs to be combined with clinical manifestations,histopathological characteristics,immunohistochemistry,and related gene testing for comprehensive diagnosis.