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)率分别为(41.90±3.20)%、(38.20±2.20)%,ALL与AML患者的1 a EFS率比较差异无统计学意义(χ^(2)=0.512,P>0.05);ALL与AML患者1 a总体生存(OS)率分别为(60.50±4.20)%、(58.20±4.60)%,ALL与AML患者1 a OS率比较差异无统计学意义(χ^(2)=0.175,P>0.05)。MLL-R阳性与MLL-R阴性患者1 a EFS率分别为(34.60±2.70)%、(36.20±3.10)%,MLL-R阳性与MLL-R阴性患者1 a EFS率比较差异无统计学意义(χ^(2)=0.579,P>0.05);MLL-R阳性与MLL-R阴性患者1 a OS率分别为(37.30±4.20)%、(56.60±5.20)%,MLL-R阳性与MLL-R阴性患者1 a OS率比较差异有统计学意义(χ^(2)=4.092,P<0.05)。结论AML及ALL患者在染色体核型异常方面比较无显著差异,在AML及ALL患者中均可见融合基因MLL-R,虽然MLL-R阳性患者更易发生肝脾肿大、染色体核型异常及白细胞计数升高,但MLL-R阳性患者的疗效与阴性患者无明显差异。AML及ALL患者目前治疗方式仍以化学治疗为主,虽然MLL-R阴性患者1 a OS率优于MLL-R阳性患者,但MLL-R阳性与MLL-R阴性患者的1 a EFS率无显著差异。
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 negative MLL-R(χ^(2)=13.961,P<0.05).There was no significant difference in leukemia typing,age,gender,platelet count and hemoglobin level between patients with positive MLL-R and those with negative MLL-R(P>0.05).In the ALL group,there was no significant difference in remission rate,relapse rate and mortality rate between MLL-R positive and MLL-R negative patients(P>0.05);in the AML group,there was no significant difference in remission rate,relapse rate and mortality rate between MLL-R positive and MLL-R negative patients(P>0.05).There was no significant difference in mortality rate between leukemia patients who received chemotherapy and bone marrow stem cell transplantation(P>0.05).The 1-year event free survival(EFS)rates of ALL and AML patients were(41.90±3.20)%and(38.20±2.20)%,respectively,and there was no significant difference in the 1-year EFS rate between the ALL and AML patients(χ^(2)=0.512,P>0.05).The 1-year overall survival(OS)rates of ALL and AML patients were(60.50±4.20)%and(58.20±4.60)%,respectively,and there was no significant difference in the 1-year OS rate between the ALL and AML patients(χ^(2)=0.175,P>0.05).The 1-year EFS rates of MLL-R positive and MLL-R negative patients were(34.60±2.70)%and(36.20±3.10)%,respectively,and there was no significant difference in the 1-year EFS rate between the MLL-R positive and MLL-R negative patients(χ^(2)=0.579,P>0.05).The 1-year OS rates of MLL-R positive and MLL-R negative patients were(37.30±4.20)%and(56.60±5.20)%,respectively,and there was a significant difference in the 1-year OS rate between the MLL-R positive and MLL-R negative patients(χ^(2)=4.092,P<0.05).Conclusion There is no significant difference in abnormal chromosome karyotype between AML and ALL patients.The fusion gene MLL-R can be found in both AML and ALL patients.Although MLL-R positive patients are more likely to have hepatosplenomegaly,abnormal chromosome karyotype and elevated leukocyte count,the efficacy shows no significant difference between MLL-R positive patients and negative patients.The current treatment for AML and ALL patients is mainly chemotherapy.Although MLL-R negative patients have better 1-year OS rates than MLL-R positive patients,there is no significant difference in the 1-year EFS rate between MLL-R positive and MLL-R negative patients.
作者
应裴裴
冯玉虎
YING Peipei;FENG Yuhu(Department of Hematology,Fuyang People′s Hospital Affiliated to Anhui Medical University,Fuyang 236000,Anhui Province,China)
出处
《新乡医学院学报》
CAS
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)。
关键词
急性白血病
染色体
分子遗传学分析
生存分析
acute leukemia
chromosome
molecular genetic analysis
survival analysis
作者简介
应裴裴(1991-),女,安徽阜阳人,硕士,主治医师,主要从事急性白血病的基础与临床研究;通信作者:冯玉虎(1975-),男,安徽阜阳人,硕士,主任医师,主要从事急性白血病的基础与临床研究,E-mail:gubu113085@163.com。
