原发性血小板增多症127例初诊骨髓活检病理组织学诊断分析  

Pathological diagnosis of bone marrow biopsy in primary thrombocytosis:analysis of 127 cases

作　　者：刘建勇 李艳春 张娟 刘佳 徐守久 陈忠 LIU Jian-yong;LI Yan-chun;ZHANG Juan;LIU Jia;XU Shou-jiu;CHEN Zhong(Department of Pathology,Beijing Hightrust Clinical 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12期1175-1179,共5页Chinese Journal of Diagnostic Pathology

摘　　要：目的 探讨原发性血小板增多症(ET)的临床病理特征、免疫组化、诊断及鉴别诊断。方法 收集北京海思特医学检验实验室2021年至2023年初诊的127例ET病例,通过骨髓活检、免疫组化、Gomori网状纤维染色、分子遗传学等检测方法回顾性分析。结果 127例ET患者骨髓增生程度:正常/活跃66.1%(84/127)、明显活跃32.3%(41/127)、极度活跃1.5%(2/127)。免疫组化CD61证实巨核细胞显著增多,体积巨大,核深分叶及过度分叶;Gomori网状纤维染色证实骨髓网状纤维组织MF-1级多见;分子检测JAK2基因突变率73.2%(93/127)、CALR基因突变率20.5%(26/127)、MPL基因突变率3.9%(5/127),基因突变率97.6%(119/127)。结论 ET骨髓增生程度以正常或活跃常见,巨核细胞增多,网状纤维组织以MF-1级增生为主,ET与原发性骨髓纤维化及真性红细胞增多症形态学较难鉴别,诊断需结合临床表现、骨髓组织学特点、骨髓细胞形态学及相关基因检测结果综合分析,另同时结合Gomori网状纤维染色、免疫组化有助于病理精准分期。Objective To explore the clinical and pathological characteristics,immunohistochemical phenotype,pathological diagnosis,and differential diagnosis of essential thrombocythemia(ET).Methods A retrospective analysis was conducted on 127 cases of ET newly-diagnosed at Beijing HST Medical Laboratory from 2021 to 2023,using bone marrow biopsy,immunohistochemistry,Gomori reticular fiber staining,molecular genetics,and other testing methods.Results The degree of bone marrow hyperplasia in 127 ET patients was as follows:active 66.1%(84/127),significantly active 32.3%(41/127),and extremely active 1.5%(2/127).CD61 confirmed a significant increase in megakaryocytes,with a large volume and deep or excessive nuclear lobulation;Gomori staining confirmed that MF-1 grade bone marrow reticular fiber tissue was more commonly detected;Molecular testing showed that the mutation rate of JAK2 gene was 73.2%(93/127),CALR gene mutation rate was 16.5%(21/127),MPL gene mutation rate was 0.4%(5/127),and gene mutation rate was 93.7%(119/127).Conclusion The degree of ET bone marrow hyperplasia is commonly normal or active,with an increase in megakaryocytes and MF-1 grade proliferation of reticular fibrous tissue.It is difficult to distinguish ET from primary myelofibrasis and polycythemia vera morphology.Diagnosis requires a comprehensive analysis of clinical manifestations,bone marrow biopsy,Gomori reticular fiber staining,immunohistochemistry,and related gene mutation.

关 键 词：原发性血小板增多症 骨髓活检 免疫组化 Gomori网状纤维染色 

分 类 号：R733.3[医药卫生—肿瘤]