27例原发性血小板增多症骨髓的临床病理分析  

Bone marrow of essential thrombocythemia:a clinicopathological analysis of 27 cases

作　　者：张益清 ZHANG Yi-qinɡ(Department of Pathology,Beijing Hightrust Diagnostics,Beijing 100176,China)

机构地区：[1]北京海思特医学检验实验室病理科,北京100176

出　　处：《诊断病理学杂志》2024年第10期944-947,共4页Chinese Journal of Diagnostic Pathology

摘　　要：目的探讨原发性血小板增多症(ET)骨髓病理特征、免疫表型、诊断及鉴别诊断。方法回顾性分析北京海思特医学检验实验室收检的27例ET患者的骨髓活检、网银染色、免疫组织化学、血清EPO、分子检测JAK2 V617F突变、CALR 9号外显子突变、MPL 10号外显子突变及BCR/ABL1融合基因检测结果。结果男15例,女12例。27例骨髓活检造血组织容量在35VOL%~80VOL%之间,92.6%(25/27)表现为巨核细胞大而多,散在分布,胞质丰富而成熟,核呈深分叶或过度分叶,疏松的集簇少见,网银染色MF⁃0级。7.4%(2/27)表现为骨髓广泛纤维化,巨核细胞大而多,网银染色MF⁃2级,属于ET后期骨髓纤维化(Post⁃ET myelofibrosis,Post⁃ET MF)。免疫组织化学证实粒系、红系及巨核三系分布情况,分子检测JAK2 V617F突变、CALR 9号外显子及MPL 10号外显子突变,92.6%(25/27)突变阳性。结论ET易与Pre⁃PMF、CML及PV多血前期混淆,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 features,immunophenotypes,diagnosis,and differential diagnosis of essential thrombocythemia.Methods A retrospective analysis was conducted on the results of bone marrow biopsy,Gomori stain,immunohistochemistry,serum EPO,and molecular detection of JAK2 V617F mutation,CALR exon 9 mutation,MPL exon 10 mutation and BCR/ABL1 fusion gene in 27 patients with essential thrombocythemia from Beijing Hightrust Diagnostics.Results There were 15 males and 12 females.Among 27 cases of bone marrow biopsy,the volume of hematopoietic tissue ranged from 35%-80%.92.6%(25/27)showed large and numerous megakaryocytes,scattered distribution,rich and mature cytoplasm,deep or excessive lobulation of nuclei,rare loose clusters,and MF-0 grade with Gomori stain.7.4%(2/27)showed extensive fibrosis in the bone marrow,with large and numerous megakaryocytes,and MF-2 grade with Gomori stain,belonging to post-ET myelofibrosis.Immunohistochemistry confirmed the distribution of granulosa,erythroid,and megakaryocyte lineages.Molecular detection showed JAK2 V617F mutation,CALR exon 9,and MPL exon 10 mutations,with 92.6%(25/27)positive mutations.Conclusion ET is prone to be confused with pre-primary myelofibrosis,chronic myelogenous leukemia,and polycythemia vera in the early stage of polyhematosis.The diagnosis should be combined with clinical manifestations,histopathological characteristics,immunohistochemistry,and related gene testing for comprehensive diagnosis.

关 键 词：原发性血小板增多症 网银染色 免疫组化 分子检测 骨髓活检 

分 类 号：R733.3[医药卫生—肿瘤]