基于不同分类标准的髓系肿瘤实验室诊断及预后相关因素分析  

Analysis of laboratory diagnosis and prognostic factors of myeloid neoplasms based on different classification criteria

作　　者：丁静 李会丹 张春玲 王小蕊 刘伟玲 蔺丽慧[1] 邱慧颖 DING Jing;LI Huidan;ZHANG Chunling;WANG Xiaorui;LIU Weiling;LIN Lihui;QIU Huiying(Department of Clinical Laboratory,Shanghai General Hospital,Shanghai Jiao Tong University School of Medicine,Shanghai 200080,China;Department of Hematology,Shanghai General Hospital,Shanghai Jiao Tong University School of Medicine,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科,上海虹口200080 [2]上海交通大学医学院附属第一人民医院血液科,上海虹口200080

出　　处：《检验医学》2025年第1期25-31,共7页Laboratory Medicine

基　　金：科技部国家重点研发计划项目(2022YFC2009600);上海市第一人民医院临床研究创新团队项目(CTCCR-2019D04)。

摘　　要：目的 基于2022年新版髓系肿瘤诊断标准,分析骨髓原始细胞百分比对髓系肿瘤分类的实验诊断价值,为临床优化诊疗方案提供参考。方法 收集2016—2022年上海交通大学医学院附属第一人民医院髓系肿瘤患者236例,其中骨髓增生异常肿瘤(MDS)患者56例、急性髓系白血病(AML)患者180例。根据2022年更新的国际共识和分类标准将患者分为A组(原始细胞<10%)、B组(10%≤原始细胞<30%)、C组(原始细胞≥30%);将B组细分为亚组1(10%≤原始细胞<20%)和亚组2(20%≤原始细胞<30%)。比较各组临床基本特征和实验室诊断结果的差异。采用Cox回归模型评估髓系肿瘤患者预后影响因素。结果 A组和B组临床基本特征、实验室检查结果相似(P>0.05);B组和C组临床基本特征、实验室检查结果差异较大,C组年龄明显偏小(P=0.007),血红蛋白含量更高(P<0.001),白细胞计数更高(P<0.001),CEBPA(P=0.009)、KIT(P=0.007)、NRAS(P=0.042)、NPM1(P=0.016)和FLT3-ITD(P=0.001)突变率明显更高。除亚组2外周血白细胞计数较亚组1高(P=0.005),亚组1额外染色体异常患者也较亚组2多(P=0.008)外,其他实验室检查结果亚组1和亚组2差异无统计学意义(P>0.05)。SF3B1突变与低原始细胞比例有关(P=0.006),TP53突变与高龄(P=0.003)、复杂核型(P<0.001)有关。高原始细胞比例(P=0.005)、低治疗强度(P<0.001)和TP53基因突变(P<0.001)是髓系肿瘤患者生存的不良影响因素;异基因造血干细胞移植可改善预后(P <0.001)。B组男性死亡风险高于女性(P=0.009),C组BCOR基因突变患者死亡风险更高(P=0.011)。结论 10%≤原始细胞<30%的髓系肿瘤患者预后优于原始细胞≥30%的AML患者。原始细胞比例作为预后指标对临床治疗仍然具有非常重要的意义;骨髓原始细胞比例高、治疗强度低和TP53基因突变患者预后不良,异基因造血干细胞移植可改善临床预后,SF3B1和TP53基因突变患者的临床特征差异显著。Objective To assess the diagnostic role of bone marrow blast percentage in the classification of myeloid neoplasms based on different classification criteria,and to provide a reference for optimizing diagnosis and treatment strategies.Methods A total of 236 patients diagnosed with myeloid neoplasms from 2016 to 2022 at Shanghai General Hospital of Shanghai Jiao Tong University School of Medicine were enrolled,consisting of 56 patients with myelodysplastic syndrome(MDS)and 180 patients with acute myeloid leukemia(AML).According to the 2022 updated international consensus and classification criteria,the patients were classified into Group A(blast percentage<10%),Group B(10%≤blast percentage<30%)and Group C(blast percentage≥30%).Group B was further subclassified into Subgroup 1(10%≤blast percentage<20%)and Subgroup 2(20%≤blast percentage<30%). The clinical and laboratory characteristics between the groups werecompared. Cox regression model was used to evaluate the prognostic factors for myeloid neoplasms. Results Therewas no statistical significance in clinical and laboratory results between Group A and Group B(P >0.05). However,statistical significance was observed between Group B and Group C. Group C had a younger median age(P =0.007),higher hemoglobin levels(P <0.001),and higher white blood cell counts(P <0.001). The mutation rates ofCEBPA ,KIT ,NRAS ,NPM 1 and FLT 3-ITD in Group C were higher(P =0.009,P =0.007,P =0.042,P =0.016,P =0.001). Apart from peripheral white blood cell count(Subgroup 2 higher,P =0.005)and chromosomal karyotypeabnormalities(Subgroup 1 having more extra-chromosomal abnormalities,P =0.008),there was no statisticalsignificance in the other laboratory results between Subgroup 1 and Subgroup 2. SF3B 1 mutations were associated witha lower blast percentage(P =0.006),while TP 53 mutations were correlated with elder age and complex karyotype,which are considered poor prognostic factors(P =0.003,P <0.001). High blast percentage,low treatment intensityand TP 53 gene mutations were identifie

关 键 词：髓系肿瘤 实验室诊断 原始细胞比例 新版标准 遗传学 预后 

分 类 号：R730.43[医药卫生—肿瘤]