成人急性白血病148例染色体、分子遗传学异常及生存分析  

Chromosome,molecular genetic abnormalities,and survival analysis of 148 adults patients with acute leukemia

作　　者：应裴裴 冯玉虎[1] YING Peipei;FENG Yuhu(Department of Hematology,Fuyang People′s Hospital Affiliated to Anhui Medical University,Fuyang 236000,Anhui Province,China)

机构地区：[1]安徽医科大学附属阜阳人民医院血液科,安徽阜阳236000

出　　处：《新乡医学院学报》2024年第9期833-839,共7页Journal of Xinxiang Medical University

基　　金：蚌埠医学院科技项目(自然科学类)(编号:2020byzd351)。

摘　　要：目的探讨成人急性白血病(非M3型)患者的染色体、分子遗传学异常及生存情况。方法选择2019年12月至2022年12月阜阳人民医院血液科收治的148例成人急性白血病患者为研究对象。采用染色体显带分析技术(R显带)及荧光原位杂交等方法检测并分析患者的染色体核型及分子遗传学特征;通过调阅研究对象病历资料及问卷调查形式收集研究对象一般资料、实验室检查指标及预后情况,采用Kaplan-Meier法绘制生存曲线,采用Log-rank检验进行生存分析。结果148例成人急性白血病患者中,62例为急性淋巴细胞白血病(ALL),以B细胞型急性淋巴细胞白血病居多;86例为急性髓细胞性白血病(AML),亚型以M2、M5较多。141例患者成功行骨髓染色体检查,AML患者中骨髓染色体异常核型比例与ALL患者比较差异无统计学意义(χ^(2)=1.864,P>0.05)。共有143例患者完成了融合基因检查,结果提示81例AML患者中融合基因阳性者28例,其中MLL-R融合基因8例(9.87%);62例ALL患者中融合基因阳性者20例,其中MLL-R融合基因6例(9.68%)。混合谱系白血病基因重排(MLL-R)阳性患者肝脾肿大发生比例显著高于MLL-R阴性患者(χ^(2)=3.645,P<0.05),外周血白细胞计数升高(≥100×109 L-1)比例显著高于MLL-R阴性患者(χ^(2)=7.051,P<0.05),且MLL-R阳性患者骨髓染色体核型异常发生比例显著高于MLL-R阴性患者(χ^(2)=13.961,P<0.05);MLL-R阳性与MLL-R阴性患者在白血病分型、年龄、性别、血小板计数及血红蛋白水平方面比较差异无统计学意义(P>0.05)。ALL组患者中,MLL-R阳性与MLL-R阴性患者的缓解率、复发率及病死率比较差异无统计学意义(P>0.05);AML组患者中,MLL-R阳性与MLL-R阴性患者的缓解率、复发率及病死率比较差异无统计学意义(P>0.05)。接受化学治疗与骨髓干细胞移植治疗的白血病患者的病死率比较差异无统计学意义(P>0.05)。ALL与AML患者1 a无事件生存(EFS)率分�Objective To explore the chromosome,molecular genetic abnormalities and survival prognosis of adults with acute leukemia(non-M3 type).Methods A total of 148 adult patients with acute leukemia who visited the Department of Hematology of Fuyang People′s Hospital from December 2019 to December 2022 were selected as the research subjects.The chromosome karyotype and molecular genetic characteristics of the patients were detected and analyzed by using chromosome banding analysis techniques(R-banding)and fluorescence in situ hybridization.The general information,laboratory examinations and prognosis of the patients were collected from the medical records and questionnaires of the subjects.The Kaplan-Meier method was used to draw the survival curve.The survival analysis was tested by the Log-Rank method.Results Among the 148 adult patients with acute leukemia,62 developed acute lymphoblastic leukemia(ALL),with the majority of subtypes being B,and 86 developed acute myeloid leukemia(AML),with the majority of subtypes being M2 and M5.Bone marrow chromosome examination was successfully performed in 141 patients,and there was no significant difference in the proportion of abnormal bone marrow chromosome karyotypes between AML patients and ALL patients(χ^(2)=1.864,P>0.05).A total of 143 patients completed fusion gene examination,and the results showed that 28 of 81 AML patients were fusion gene positive,including 8 cases(9.87%)of mixed lineage leukemia-rearranged(MLL-R)fusion gene,and 20 of 62 ALL patients were fusion gene positive,including 6 cases(9.68%)of MLL-R fusion gene.The incidence of hepatosplenomegaly was significantly higher in patients with positive MLL-R than in patients with negative MLL-R(χ^(2)=3.645,P<0.05),and the incidence of elevated peripheral leukocyte count(≥100×109 L-1)was also higher in patients with positive MLL-R than in patients with negative MLL-R(χ^(2)=7.051,P<0.05).The incidence of abnormal bone marrow chromosome karyotype was higher in patients with positive MLL-R than in patients with

关 键 词：急性白血病 染色体 分子遗传学分析 生存分析 

分 类 号：R733[医药卫生—肿瘤]