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目的:探讨EVI1基因阳性的急性髓系白血病(acute myeloid leukemia,AML)患者的临床生物学特点及其对早期化疗疗效的影响。方法:选择2015年3月至2016年7月在北京大学血液病研究所诊治的361例AML患者病例资料进行回顾性分析,其中33例AML患者EVI1基因阳性,分析比较其临床特征和生物学特征,并比较中危及高危伴EVI1+AML患者的临床与生物学特征及诱导缓解率,分析获得完全缓解(complete remission,CR)的影响因素。32例健康供者进行EVI1/ABL基因水平检测,确定EVI1表达的异常界值。结果:以EVI1/ABL基因定量表达≥8.0%作为EVI1的阳性表达。在361例初发AML中,EVI1+AML患者共33例(9.1%),其中男性16例,女性17例,中位年龄45(18~67)岁,中位随访期为6.6(0.7~13.2)个月。中危核型17例,包括正常核型9例,1例+8;高危核型14例,包括7例-7/7q-,4例t(v;11q23),3例inv(3)/t(3;3),2例未见分裂象。33例患者1个疗程完全缓解率为42.4%,总CR率为60.6%。按《美国国立综合癌症网络(National Comprehensive Cancer Network,NCCN)指南》预后分层,分为中危组16例,高危组17例,无低危组患者。中危组与高危组1个疗程CR率分别为68.8%和17.6%(P=0.005),总CR率分别为81.3%和41.2%(P=0.032),复发率为7.7%和14.3%。单因素分析,高危染色体核型对1个疗程CR率及总体CR率均有影响(P=0.004、0.029)。高危组患者病死率显著高于中危组(41.2%vs.6.3%,P=0.039),且总生存(overall survival,OS)显著低于中危组(P=0.012)。结论:EVI1基因在AML中常伴中、高危核型表达,对于AML患者来说可能不是独立的预后因素,伴-7/7q-、t(v;11q23)及inv(3)/t(3;3)等高危染色体核型的预后差,其1个疗程CR率及总CR率、长期生存率低,病死率高,应尽早行异基因造血干细胞移植。
Objective: To investigate the clinical biological characteristics of patients with acute myeloid leukemia (AML) positive for EVI1 gene and its effect on the efficacy of early chemotherapy. METHODS: A retrospective analysis was performed on the data of 361 AML patients diagnosed and treated at Peking University Institute of Hematology from March 2015 to July 2016. Among them, 33 patients with AML were positive for EVI1 gene, and their clinical characteristics and biological characteristics were analyzed and compared. To compare the clinical and biological characteristics and induced remission rate of patients with intermediate-risk and high-risk EVI1+AML, and to analyze the factors influencing complete remission (CR). Thirty-two healthy donors were tested for EVI1/ABL gene levels to determine the abnormal cutoff of EVI1 expression. Results: Positive expression of EVI1 was quantified by ≥8.0% of EVI1/ABL gene expression. In 361 cases of newly diagnosed AML, there were 33 cases (9.1%) of EVI1+AML patients, including 16 males and 17 females. The median age was 45 (18-67) years. The median follow-up period was 6.6 (0.7-13.2). ) Months. There were 17 cases of moderate-risk karyotype including 9 cases of normal karyotype and 1 case of +8; 14 cases of high-risk karyotype, including 7 cases of -7/7q-, 4 cases of t(v;11q23), and 3 cases of inv(3)/ t(3;3), 2 cases did not see split image. The complete remission rate of one course of treatment in 33 patients was 42.4%, and the total CR rate was 60.6%. According to the National Comprehensive Cancer Network (NCCN) Guidelines, the prognosis was stratified into 16 patients in the intermediate-risk group, 17 patients in the high-risk group, and no patients in the low-risk group. The CR rate in the middle-risk group and high-risk group was 68.8% and 17.6%, respectively (P=0.005). The total CR rate was 81.3% and 41.2% (P=0.032), and the recurrence rate was 7.7% and 14.3%. Univariate analysis showed that high-risk karyotype had an effect on the CR rate and overall CR rate of one course of treatment (P=0.004, 0.029). The mortality rate of the high-risk group was significantly higher than that of the middle-risk group (41.2% vs. 6.3%, P=0.039), and the overall survival (OS) was significantly lower than the middle-risk group (P=0.012). Conclusion: EVI1 gene is often associated with moderate- and high-risk karyotype expression in AML and may not be an independent prognostic factor in patients with AML, with -7/7q-, t(v;11q23) and inv(3)/t(3; 3) The prognosis of high-risk karyotypes is poor, CR rate, total CR rate, long-term survival rate, and high mortality are high in one course of treatment. Allogeneic hematopoietic stem cell transplantation should be performed as soon as possible.