摘要
目的:探讨亲嗜性病毒整合位点1阳性急性髓系白血病[EVI1(+)AML)]患者的临床特征、治疗方案、治疗反应及生存情况。方法:收集30例14岁及以上的青少年和成人EVI1(+)AML患者的临床资料,对其临床特征、治疗方案、疗效及预后进行分析。结果:本EVI1(+)AML研究队列中,年龄<60岁的成人患者占绝大多数(80.0%),初诊时以骨髓原始细胞<50%(73.3%)及白细胞计数<30×109/L居多(63.3%),FAB分型以M2多见(50.0%)。骨髓增生异常综合征(MDS)转化AML 5例,占16.7%。按WHO 2022分型,骨髓增生异常相关AML 10例,占33.3%。按细胞遗传学和ELN 2017预后分组,只有1例t(8;21)/RUNX1T1-RUNX1的低危组患者,其他均为中高危组。难治/复发性AML患者17例,占73.9%。初诊时临床与实验室参数与诱导治疗是否有效及是否为难治/复发性AML无关(P>0.05)。以DNA二代测序方法检测基因突变的患者24例,19例患者伴有至少1种基因突变,但与是否为难治/复发性AML无关(P>0.05)。第1个疗程治疗方案有效率(CR+PR)为52.2%,第1个疗程所有诱导治疗方案1年累计死亡率(CMR)为61.1%。其中采取标准及大剂量单纯化疗和去甲基化药物联合小剂量化疗和(或)小分子靶向药物的相对缓解率(P=0.667)和CMR(P=0.101),差异均无统计学意义。行标准及大剂量单纯化疗方案患者的总生存期(OS)显著优于去甲基化药物联合小剂量化疗和(或)小分子靶向药物的患者(P=0.010)。以造血干细胞移植(SCT)作为巩固化疗方案,1年CMR显著优于非SCT方案(P=0.013),且行SCT患者的OS明显优于未行SCT患者(P=0.001)。结论:EVI1(+)AML患者多为高危组,部分为MDS转化或骨髓增生异常相关AML,常伴有其他基因突变,多为难治/复发性,1年CMR高,预后差。临床特征及目前诱导治疗方案与治疗反应和1年CMR无关。诱导后行SCT可降低死亡率,改善生存。
Objective:To investigate the clinical features,therapeutic regiments,treatment response and survival of EVI1(+)acute myeloid leukemia(AML).Methods:Clinical charateristics,therapeutic regimens,treatment response and prognosis of 30 adolescent and adult EVI1(+)AML were analyzed.Results:In this EVI1(+)AML study cohort,the majority of adult patients(80.0%)were younger than 60 years old.At the initial diagnosis,the majority of them were low bone marrow primordial cells(73.3%)and low white blood cell count(63.3%).M2 type was the predominant FAB subtype and accounting for 50.0%.There were 5 MDS-AML,accounting for 16.7%.According to WHO 2022 classification,there were 10 cases of myelodysplasia-related AML,accounting for 33.3%.According to ELN 2017 classification,there was one case t(8;21)/RUNX1T1-RUNX1 within favorable-risk group,whereas the other 29 cases belong to intermediate and high-risk groups.There were 17 cases of refractory/relapse,accounting for 73.9%.The parameters of clinical features and laboratory tests were correlated with treatment response and refractory/relapse status and there were no signicant associations(P>0.05).There were 24 cases examined with genetic mutational statuses with next generation sequencing.19 of the 24 cases had at least one genetic muation.Meanwhile it did not show correlation between mutational statuses and refractory/relapse statuses.The overall remission rate of first cycle of inductive treatment was 52.2%,and the one-year cumulative mortality rate(CMR)was 61.1%.The different first cycle inductive treatment regimens did not significantly influence on either remission rate(P=0.667)or CMR(P=0.101).There were no significant differences between high/standard dose chemotherapeutic regimens and demethylation drug based combinatory treatments.Survival analysis suggested significant improvement of survival in patients treated with high/standard dose chemotherapeutic regimens verses demethylation drug based combinatory treatments(P=0.010).Consolidation treatment with SCT significantly improved 1 year CMR(P=0.013)and overall survival verses non-SCT treatment(P=0.001).Conclusion:EVI1(+)AML are mostly in poor risk status,with the predomiant WHO 2022 subtype of myelodysplasia-related AML.EVI1(+)AML usually have at least one mutational alteration and are mostly relapsed and refractory with high 1 year CMR.It suggested that inductive treatment regimen with high/standard dose chemotherapy and SCT treatment significantly improve the survival of patients.
作者
胡东
胡池玥
何静
HU Dong;HU Chiyue;HE Jing(Stem Cell Research and Application Center,Union Hospital,Tongji Medical College,Hua-zhong University of Science and Technology,W uhan,430022,China;Medical College of Nan-chang University;Institute of Hematology,Union Hospital,Tongji Medical College,Hua-zhong University of Science and Technology)
出处
《临床血液学杂志》
CAS
2023年第3期159-164,共6页
Journal of Clinical Hematology
关键词
EVI1
急性髓系白血病
临床特征
治疗
EVI1
acute myeloid leukemia
clinical characteristics
treatment
