非急性早幼粒细胞白血病患者骨髓中性粒细胞出现柴捆状Auer小体的临床特征分析  

Clinical Characteristics of the Patients with the Appearance of Bundles of Auer Rods in Bone Marrow Neutrophils in Non-Acute Promyelocytic Leukemia

作　　者：邹桦烨 王谦[1] 朱明清[1] 潘金兰[1] 姚利[1] 沈宏杰[1] 刘丹丹[1] ZOU Hua-ye;WANG Qian;ZHU Ming-qing;PAN Jin-lan;YAO Li;SHEN Hong-jie;LIU Dan-dan(Laboratory for Hematologic Diseases,First Affiliated Hospital of Soochow University,Jiangsu Institute of Hematology,Suzhou,Jiangsu,215006,China)

机构地区：[1]苏州大学附属第一医院血液病研究室,江苏省血液研究所,江苏苏州215006

出　　处：《中国血液流变学杂志》2023年第4期495-499,581,F0002,共7页Chinese Journal of Hemorheology

基　　金：国家自然科学基金面上项目(81970136)。

摘　　要：目的探讨除急性早幼粒细胞白血病(APL)外中性粒细胞出现柴捆状Auer小体的疾病类型及其临床特征。方法回顾性分析2023年1月—2023年10月在苏州大学附属第一医院就诊的非APL患者中,骨髓细胞学检查中性粒细胞检出柴捆状Auer小体的3例病例的临床及实验室特点,包括一般信息、外周血检查、骨髓形态学、骨髓病理学、免疫分型、多重PCR检测、细胞遗传学、二代测序等。并复习相关文献,总结此种罕见的形态学异常发生特点及临床意义。结果柴捆状Auer小体主要见于APL的异常早幼粒细胞的胞质中,晚期及成熟中性粒细胞出现柴捆状Auer小体主要见于APL进行诱导治疗后。3例病例中,1例为伴CBFβ::MYH11再现性异常的急性髓细胞白血病(AML),在晚幼粒细胞的胞质中检出柴捆状Auer小体,2例为骨髓增生异常肿瘤(MDS),均在成熟中性粒细胞胞质中检出柴捆状Auer小体。3例均为非APL的血液系统恶性增殖性疾病。3例患者白细胞计数均减少。3例患者的骨髓细胞形态学检查原始细胞比例分别为15%、5%及10.5%,3例患者粒系细胞均出现病态造血表现,伴或不伴红系及巨核系病态。例1和例3的骨髓病理提示MDS。例1和例2的染色体核型分析均未见异常;例3染色体核型分析为48,XX,+i(1)(q10),+9[10]。例2及例3患者多重PCR均未检测到常见的43种白血病融合基因转录本(包括PML-RARα及其变异型)。例1二代测序检测到WT119.29%,CBFβ::MYH1115.99%;例2二代测序未见到具有临床意义的变异;例3二代测序检测到ETV645.0%,SF3B111.6%。结论柴捆状Auer小体不是APL所特有的,在非APL的AML及MDS中也可见到;非APL患者骨髓中性粒细胞出现柴捆状Auer小体比较罕见,可能是病态造血的表现之一,为细胞异常克隆起源的标志;但柴捆状Auer小体对该类疾病的预后意义还需更多的病例进行评估。Objective To investigate the disease types and clinical characteristics with the appearance of bundles of Auer rods in neutrophils except acute promyelocytic leukemia(APL).Methods The clinical and laboratory characteristics of 3 non-APL patients with the appearance of bundles of Auer rods in neutrophils who were diagnosed in the First Affiliated Hospital of Soochow University from January 2023 to October 2023 were retrospectively analyzed.The study includes general information,peripheral blood examination,bone marrow morphologic examination,bone marrow pathology,immunophenotype,multiple PCR detection,cytogenetics,second-generation sequencing,etc.The related literatures were reviewed to summarize the characteristics and clinical significance of this rare morphological abnormality.Results Bundles of Auer rods were mainly observed in the cytoplasm of abnormal promyelocytes of APL,and appearance of bundled Auer rods in later stage cells and mature neutrophils normally in the APL patients after induction therapy.Among the 3 cases,1 case was acute myeloid leukemia(AML)with CBFβ::MYH11 fusion with the bundles of Auer rods were detected in the cytoplasm of metamyelocytes,2 cases were diagnosed as myelodysplastic neoplasms(MDS),all of which were found to have bundles of Auer rods in the cytoplasm of mature neutrophils.All of the three cases were non-APL hematological malignant proliferative diseases.In the bone marrow smears examination,the proportion of blast cells were 15%,5%and 10.5%respectively in the three patients,and all of the those showed granulocytic dysplasia,with or without erythroid and megakaryocyte dysplasia.Bone marrow pathology in cases 1 and 3 suggested MDS.Chromosome karyotype analysis of case 1 and case 2 showed no abnormality.Karyotype analysis of case 3 was 48,XX,+i(1)(q10),+9[10].In case 2 and case 3,the 43 common types of leukemia fusion gene transcripts(including PML-RARαand its variants)were not detected by multiplex PCR.In case 1,19.29%WT1 and 15.99%CBFβ::MYH11 were detected by second-generat

关 键 词：柴捆状Auer小体 成熟中性粒细胞 骨髓增生异常肿瘤 CBFβ::MYH11 

分 类 号：R733[医药卫生—肿瘤]