RUNX1-RUNX1T1融合基因阳性急性髓系白血病骨髓形态学特点分析  

Analysis of bone marrow morphological characteristics in acute myeloid leukemia with positive RUNX1-RUNX1T1 fusion gene

作　　者：刘梦娜 王洪玲 廖焕金 李莉[1] 白萍 LIU Mengna;WANG Hongling;LIAO Huanjin;LI Li;BAI Ping(Department of Laboratory Medicine,Shanghai General Hospital,School of Medicine,Shanghai Jiaotong University,Shanghai 200080,China)

机构地区：[1]上海交通大学医学院附属第一人民医院检验医学中心,上海200080

出　　处：《国际检验医学杂志》2024年第17期2081-2086,共6页International Journal of Laboratory Medicine

基　　金：上海市“科技创新行动计划”启明星项目(22YF1435600)。

摘　　要：目的探讨RUNX1-RUNX1T1融合基因阳性急性髓系白血病(AML)骨髓形态学特点。方法选取2017年1月至2023年1月该院初诊的20例RUNX1-RUNX1T1融合基因阳性AML病例作为A组,20例融合基因阴性的AML病例为B组,24例PML-RARA融合基因阳性AML病例为C组,对骨髓形态学、免疫学、细胞遗传学和分子生物学检查进行回顾性分析,同时结合国内外文献分析类似病例骨髓细胞形态学特点。结果A组骨髓中出现不同程度增多的早幼粒细胞,早幼粒细胞数目与B组相比,差异有统计学意义(P<0.05),与C组相比差异亦有统计学意义(P<0.001)。A组部分早幼粒细胞存在形态异常且A组融合基因的表达量与骨髓早幼粒细胞数目呈正相关(r=0.478,P=0.039)。A组CD56、CD19表达及c-Kit突变情况明显高于B组(P<0.05),A、B两组1个疗程化疗缓解情况比较差异无统计学意义(P>0.05)。A组易出现CD56和CD19同时表达,易伴随性染色体的缺失。结论RUNX1-RUNX1T1融合基因阳性AML在骨髓形态学、免疫学、细胞遗传学和分子生物学方面有其独特的特点。骨髓中粒细胞系统易见不同程度的病态造血,变异性大,早幼粒细胞数目的增多及形态异常亦可作为RUNX1-RUNX1T1融合基因阳性AML骨髓形态学特点之一。Objective To investigate the morphological characteristics of bone marrow in RUNX1-RUNX1T1 fusion gene-positive AML.Methods From January 2017 to January 2023,20 cases of RUNX1-RUNX1T1 fusion gene-positive AML patients newly diagnosed in this hospital were selected as group A,20 cases of AML patients without fusion gene were selected as group B,and 24 cases of PML-RARA fusion gene-positive AML patients were selected as group C.Results of bone marrow morphology,immunology,cytogenetics and molecular biology were analyzed retrospectively.The morphological characteristics in similar cases combined with domestic and foreign literature were summarized.Results The number of promyelocytes in group A increased in different degrees,the difference was statistically significant compared with group B(P<0.05),and the difference was also statistically significant compared with group C(P<0.001).In group A,some promyelocytes had abnormal morphology,and the mRNA level of fusion gene was positively correlated with the number of promyelocytes(r=0.478,P=0.039).Patients with expressions of CD56,CD19 and c-Kit mutation in group A was much more than that in group B(P<0.05).No significant difference was detected in remission rate after the first course of chemotherapy between group A and group B(P>0.05).Besides,the simultaneous expression of CD56 and CD19 in group A was easy to accompany the loss of sex chromosome.Conclusion AML with positive RUNX1-RUNX1T1 fusion gene could be identified with bone marrow morphology,immunology,cytogenetics and molecular biology.Granulocyte in the bone marrow is prone to different degrees of pathological hematopoiesis with great variability.The increased number and abnormal morphology of promyelocytes in bone marrow may be one of the morphologic features of AML with positive RUNX1-RUNX1T1 fusion gene.

关 键 词：RUNX1-RUNX1T1 融合基因 急性髓系白血病 骨髓形态学 

分 类 号：R446.6[医药卫生—诊断学] R733.7[医药卫生—临床医学]