摘要
目的报告1例骨髓细胞形态学表现为慢性粒细胞白血病(CML)的原发性骨髓纤维化(PMF)患者的诊疗过程,分析其检查结果,总结其临床特点。方法2019年10月19日浙江大学医学院附属第四医院血液科收治1例白细胞增多患者,临床高度怀疑为CML,完善实验室检查(包括血常规、生化指标、骨髓细胞形态学、骨髓活检病理学检查、免疫分型)以及染色体与分子生物学基因定量检测,结合临床表现和实验室检查等结果综合判定,诊断为PMF。结果患者为77岁男性,因“咳嗽、咳痰,白细胞计数(WBC)增高”就诊。血常规检查显示WBC 28×10^(9)/L;骨髓细胞形态学检查结果显示有核细胞减少,粒系细胞增生活跃;骨髓活检显示粒红系细胞比例升高,可见较多幼稚粒细胞;免疫分型结果显示骨髓中粒系细胞分化成熟。最终结合JAK2/V617F基因、染色体、基因二代测序结果排除CML可能,确诊为PMF。结论PMF一般可通过骨髓病理学活检确诊,当活检和骨髓细胞形态学均无法鉴别时,需结合JAK2/V617F基因检测及二代测序来诊断。
Objective To report the diagnosis and treatment of a patient with primary myelofibrosis(PMF)manifested by chronic myeloid leukemia(CML)as bone marrow cell morphology.Methods On October 19,2019,a patient with leucocytosis was admitted to the department of hematology in the Fourth Affiliated Hospital of Zhejiang University School of Medicine.The patient was highly suspected of CML,and the laboratory examination(including blood routine,biochemical indexes,bone marrow cell morphology,bone marrow biopsy pathology and immunotyping)and quantitative detection of chromosome and molecular biological genes were performed.Combined with clinical manifestations and laboratory examination results,the diagnosis of the patient was PMF.Results The patient was a 77-year-old male presented with cough,expectoration and leukocytosis.Blood routine examination showed that the white blood cell count(WBC)was 28×10^(9)/L.The results of morphological examination of bone marrow cells showed that the number of nucleated cells decreased,and the proliferation of granulocyte was active.Bone marrow biopsy showed that the proportion of granulocytes increased,and more immature granulocytes were seen.The results of immunophenotyping showed that the granulocytes were mature.Combined with JAK2/V617F gene,chromosome and gene sequencing results,CML was excluded and PMF was diagnosed.Conclusion PMF can be diagnosed by bone marrow biopsy.When biopsy and bone marrow cell morphology can not be differentiated,JAK2/V617F gene detection and second generation sequencing should be combined to diagnose PMF.
作者
郑梦力
许智平
郑智康
陈丹
黄健
Zheng Mengli;Xu Zhiping;Zheng Zhikang;Chen Dan;Huang Jian(Department of Hematology,the Fourth Affiliated Hospital of Zhejiang University School of Medicine,Yiwu 322000,Zhejiang,China)
出处
《实用检验医师杂志》
2021年第2期126-128,共3页
Chinese Journal of Clinical Pathologist
