急性全髓细胞增生症伴骨髓纤维化1例临床分析并文献复习  

Clinical analysis of a case of acute panmyelosis with myelofibrosis and literature review

作　　者：陈百川 黄菲[1] 史仲珣 王蓉[1] 王琰[1] 李建勇[1] 沈文怡[1] Chen Baichuan;Huang Fei;Shi Zhongxun;Wang Rong;Wang Yan;Li Jianyong;Shen Wenyi(Department of Hematology,First Affiliated Hospital of Nanjing Medical University,Nanjing 210029,Jiangsu Province,China)

机构地区：[1]南京医科大学第一附属医院血液科,南京210029

出　　处：《国际输血及血液学杂志》2024年第3期248-254,共7页International Journal of Blood Transfusion and Hematology

基　　金：国家自然科学基金项目(81400079);江苏省卫生和计划生育委员会项目(Z201402);江苏省六大人才高峰项目(WSN-026)。

摘　　要：目的探讨急性全髓细胞增生症伴骨髓纤维化(APMF)患者的临床特征、诊疗策略及预后,并进行相关文献复习。方法选择2020年5月11日就诊于南京医科大学第一附属医院血液科的1例62岁APMF男性患者(患者1)为研究对象。采用回顾性分析方法,对其病史、临床特征、实验室及辅助检查结果等临床资料,以及诊治过程进行分析。对患者1的随访截至2022年11月12日。本研究以"急性全髓细胞增生症伴骨髓纤维化""acute panmyelosis with myelofibrosis""APMF"为中、英文关键词,在中国知网数据库、PubMed数据库中检索APMF相关文献,并总结相关病例的诊疗资料。文献检索时间设定为数据库建库至2023年5月1日。本研究符合2013年修订的《世界医学协会赫尔辛基宣言》要求,并获得患者1及其家属知情同意。结果①患者1因"血常规检查结果异常1周"入院。入院后,患者1血常规检查结果示,白细胞计数(WBC)、中性粒细胞计数、血小板计数、血红蛋白(Hb)值、红细胞计数分别为5.89×10^(9)/L、4.01×10^(9)/L、276×10^(9)/L、70 g/L、3.52×10^(12)/L。血清乳酸脱氢酶、铁蛋白水平升高。骨髓细胞形态学检查结果示,骨髓原始细胞比例为8.8%,三系增生减低伴明显病态造血。过氧化物酶染色及糖原染色结果均显示,原始细胞呈阴性;提示急性髓细胞白血病(AML)(APMF可能性大)。骨髓活组织病理学检查结果示,骨髓增生极度活跃,原幼细胞小簇增生,占有核细胞比例约为20%,原早红细胞比例明显增高,巨核细胞以细胞体小、少分叶的巨核细胞为主,纤维组织弥漫性增生,骨髓纤维化(MF)-3级,提示APMF。骨髓免疫分型结果示,CD34+细胞占有核细胞比例为1.1%,表达髓系标志物,成熟粒细胞比例明显减低伴轻度分化异常,红系比例异常增高,单核细胞比例减少。染色体核型分析结果为46,XY[11]。二代测序(NGS)结果提示,患者伴一级变异U2AF1和RUNX1突�ObjectiveTo investigate clinical characteristics,diagnostic and treatment strategies,and prognosis of patients with acute panmyelosis with myelofibrosis(APMF),and review relevant literature.MethodsOn May 11,2020,a case of 62 year-old male with APMF admitted to Hematology Department of First Affiliated Hospital of Nanjing Medical University was selected as research subject(patient 1).Using a retrospective analysis approach,the medical history,clinical features,laboratory results,additional diagnostic findings,diagnosis,and treatment of patients 1 were analyzed.Patient 1 was followed up until November 12,2022.China National Knowledge Infrastructure database and PubMed database were searched by keywords"acute panmyelosis with myelofibrosis""APMF"in Chinese and English.Literature related to APMF was summarized.Time for literature retrieval was set from established to May 1,2023.Procedure followed in this study was in line with requirements of World Medical Association Declaration of Helsinki revised in 2013,and informed consent of clinical research was obtained from patient 1 and his family.Results①Patient 1 was admitted due to"abnormal blood test results for 1 week".After admitted,blood test results showed white blood cell count(WBC),neutrophil count,platelet count,hemoglobin(Hb)value,and red blood cell count were 5.89×10^(9)/L,4.01×10^(9)/L,276×10^(9)/L,70 g/L and 3.52×10^(12)/L,respectively.Serum lactate dehydrogenase and ferritin levels were elevated.Bone marrow blast cells revealed 8.8%,and reduced hematopoiesis in all three cell lines with marked dysplasia.Results of peroxidase staining and glycogen staining both showed that the blast cells were negative.And it indicated the possibility of APMF.Bone marrow biopsy showed highly active marrow,and small clusters of prokaryotic cells proliferated,accounting for about 20%of nuclear cells,and the proportion of proto-early red cells was significantly increased.Megakaryocytes were mainly megakaryocytes with small cell body and little lobulation.Diffuse hyperplasi

关 键 词：原发性骨髓纤维化 白血病 髓样 急性 诊断 药物疗法 预后 急性全髓增生伴骨髓纤维化 

分 类 号：R551.3[医药卫生—血液循环系统疾病]