【摘要】：目的:探討EVI1基因陽(yáng)性的急性髓系白血病(acute myeloid leukemia,AML)患者的臨床生物學(xué)特點(diǎn)及其對(duì)早期化療療效的影響。方法:選擇2015年3月至2016年7月在北京大學(xué)血液病研究所診治的361例AML患者病例資料進(jìn)行回顧性分析,其中33例AML患者EVI1基因陽(yáng)性,分析比較其臨床特征和生物學(xué)特征,并比較中危及高危伴EVI1+AML患者的臨床與生物學(xué)特征及誘導(dǎo)緩解率,分析獲得完全緩解(complete remission,CR)的影響因素。32例健康供者進(jìn)行EVI1/ABL基因水平檢測(cè),確定EVI1表達(dá)的異常界值。結(jié)果:以EVI1/ABL基因定量表達(dá)≥8.0%作為EVI1的陽(yáng)性表達(dá)。在361例初發(fā)AML中,EVI1+AML患者共33例(9.1%),其中男性16例,女性17例,中位年齡45(18~67)歲,中位隨訪期為6.6(0.7~13.2)個(gè)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例未見分裂象。33例患者1個(gè)療程完全緩解率為42.4%,總CR率為60.6%。按《美國(guó)國(guó)立綜合癌癥網(wǎng)絡(luò)(National Comprehensive Cancer Network,NCCN)指南》預(yù)后分層,分為中危組16例,高危組17例,無(wú)低危組患者。中危組與高危組1個(gè)療程CR率分別為68.8%和17.6%(P=0.005),總CR率分別為81.3%和41.2%(P=0.032),復(fù)發(fā)率為7.7%和14.3%。單因素分析,高危染色體核型對(duì)1個(gè)療程CR率及總體CR率均有影響(P=0.004、0.029)。高危組患者病死率顯著高于中危組(41.2%vs.6.3%,P=0.039),且總生存(overall survival,OS)顯著低于中危組(P=0.012)。結(jié)論:EVI1基因在AML中常伴中、高危核型表達(dá),對(duì)于AML患者來(lái)說(shuō)可能不是獨(dú)立的預(yù)后因素,伴-7/7q-、t(v;11q23)及inv(3)/t(3;3)等高危染色體核型的預(yù)后差,其1個(gè)療程CR率及總CR率、長(zhǎng)期生存率低,病死率高,應(yīng)盡早行異基因造血干細(xì)胞移植。
[Abstract]:Objective: to investigate the clinical biological characteristics of EVI1 gene positive patients with acute myeloid leukemia (acute myeloid leukemia,AML) and its effect on early chemotherapy. Methods: the data of 361patients with AML diagnosed and treated in the Institute of Hematology, Peking University from March 2015 to July 2016 were analyzed retrospectively. among them, 33 patients with AML were positive for EVI1 gene. The clinical and biological characteristics and induced remission rate of patients with high risk and EVI1 AML were analyzed and compared, and the complete remission (complete remission, was obtained. The influencing factors of CR). The level of EVI1/ABL gene was detected in 32 healthy donors to determine the abnormal boundary value of EVI1 expression. Results: the quantitative expression of EVI1/ABL gene 鈮，

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