CAJ | 학술논문

目的探讨混合谱系白血病(MLL)-AF6融合基因[t(6;11) (q27;q23)]阳性急性髓系白血病(AML)患者的临床特点与预后.方法收集安徽省立医院血液内科住院初治MLL-AF6融合基因阳性的AML患者8例,利用多重巢式反转录-聚合酶链反应(RT-PCR)检测治疗前后MLL-AF6融合基因动态变化,分析患者临床特征、免疫表型、细胞遗传学、患者首次诱导治疗后完全缓解(CR)率、总体生存率、造血干细胞移植效果与患者预后的关系.结果 2009年2月至2013年8月住院患者确诊为急性白血病(AL)患者472例,其中AML患者285例,包括MLL-AF6融合基因阳性AML患者8例,占AL的1.69％(8/472),占AML的2.80％(8/285).MLL-AF6融合基因阳性AML患者按WHO分型:M11例,M22例,M42例,M53例,以M4/M5为主(5例).8例AML患者首次化疗后CR 5例,总体生存4例.4例单纯化疗患者中,有2例在第1个疗程结束后MLL-AF6融合基因转阴,且1例获得了血液学CR并已生存26个月,1例初诊后6个月复发,后经治疗后死亡;2例患者第1个疗程结束后MLL-AF6融合基因未转阴(1例转为弱阳性,1例仍为阳性),均未获得血液学CR且死亡.4例造血干细胞移植患者中,3例移植前MLL-AF6融合基因转阴,均无复发,仍生存,平均生存时间28个月;1例患者移植前MLL-AF6融合基因未转阴(弱阳性),移植后复发死亡.结论 MLL-AF6融合基因阳性AML患者在AML-M4/M5中发生率高,发病时常伴有高白细胞、器官浸润,且治疗效果差,易复发,预后差,造血干细胞移植可显著改善患者预后.RT-PCR检测治疗前后MLL-AF6融合基因的动态变化可在一定程度上帮助判断患者预后.
목적 탐토혼합보계백혈병(MLL)-AF6융합기인[t(6;11) (q27;q23)]양성급성수계백혈병(AML)환자적림상특점여예후.방법 수집안휘성립의원혈액내과주원초치MLL-AF6융합기인양성적AML환자8례,이용다중소식반전록-취합매련반응(RT-PCR)검측치료전후MLL-AF6융합기인동태변화,분석환자림상특정、면역표형、세포유전학、환자수차유도치료후완전완해(CR)솔、총체생존솔、조혈간세포이식효과여환자예후적관계.결과 2009년2월지2013년8월주원환자학진위급성백혈병(AL)환자472례,기중AML환자285례,포괄MLL-AF6융합기인양성AML환자8례,점AL적1.69％(8/472),점AML적2.80％(8/285).MLL-AF6융합기인양성AML환자안WHO분형:M11례,M22례,M42례,M53례,이M4/M5위주(5례).8례AML환자수차화료후CR 5례,총체생존4례.4례단순화료환자중,유2례재제1개료정결속후MLL-AF6융합기인전음,차1례획득료혈액학CR병이생존26개월,1례초진후6개월복발,후경치료후사망;2례환자제1개료정결속후MLL-AF6융합기인미전음(1례전위약양성,1례잉위양성),균미획득혈액학CR차사망.4례조혈간세포이식환자중,3례이식전MLL-AF6융합기인전음,균무복발,잉생존,평균생존시간28개월;1례환자이식전MLL-AF6융합기인미전음(약양성),이식후복발사망.결론 MLL-AF6융합기인양성AML환자재AML-M4/M5중발생솔고,발병시상반유고백세포、기관침윤,차치료효과차,역복발,예후차,조혈간세포이식가현저개선환자예후.RT-PCR검측치료전후MLL-AF6융합기인적동태변화가재일정정도상방조판단환자예후.
Objective To investigate the clinical characteristics and prognostic of acute myeloid leukemia (AML) patients with MLL-AF-6 fusion gene.Methods Samples from eight acute myeloid leukemia patients with MLL-AF-6 fusion gene hospitalized in Department of Hematology of Anhui Provincial Hospital were collected.The correlation between clinical features,immunophenotype,rate of complete remission after the first induction therapy,overall survival,response to allo-HSCT or prognosis of patients and the dynamic change of MLL-AF6 fusion gene which was accessed by multiplex nested reverse transcription-polymerase chain reaction was.Results From February 2009 to August 2013,472 patients were diagnosed as acute leukemia (AL),including 285 AML patients,and eight of them with MLL-AF-6 fusion gene,who were account for 1.69 ％ (8/472) of AL and 2.80 ％ (8/285) of AML.According to WHO classification,all MLL-AF6 fusion gene-positive patients were classified into M1 (1 case),M2 (2 cases),M4 (2 cases),M5 (3 cases),in which M4/M5 were accounted for 62.50 ％ (5/8).After first induction therapy,the complete response (CR) and overall survival (OS) rated of AML patients with MLL-AF6 were 62.50 ％ (5/8) and 50.0 ％ (4/8),respectively.At the end of first course therpy,two of four patients receiving chemotherapy alone had negative detection of MLL-AF-6 fusion gene.During the follow-up period,one of them achieved hematologic complete remission and survived for 26 months,and the other had recurrence six months after diagnosis and died after treatment.The other 2 patients receiving chemotherapy alone had no change in MLL-AF6 fusion gene expression,who didn 't achieve hematologic complete remission and died finally.Four patients received bone marrow transplantation at the end of first course.Three of them became MLL-AF6 fusion gene negative and achieved hematologic complete remission,and survived with mean survival 28 months.One patient who received bone marrow transplantation did not become MLL-AF6 fusion gene negative and died after transplantation.Conclusions There is high incidence of MLL-AF6 fusion gene rearrangement in M4/M5 patients,which is often accompanied with hyperleukocytosis,organ infiltration,worse therapeutic effects,high recurrence rate and poor prognosis.HSCT is a reasonable treatment to improve the prognosis of those patients.Monitor the changes of MLL-AF6 fusion gene during the treatment can help to indicate the prognosis of patients.