CAJ | 학술논문

目的探讨有利于Ph染色体和(或)BCR-ABL融合基因阳性急性髓系白血病(Ph/BCR-ABL+ AML)诊断的临床和实验室特征.方法收集2006年2月至2013年12月收治的12例Ph/BCR-ABL+ AML患者资料,以典型慢性髓性白血病急髓变(CML-MBC)患者为对照组,回顾性分析两者临床及实验室特征,并随访生存情况.结果 12例患者中位年龄27.5岁,无或轻度脾脏肿大者10例(83.3％),FAB分型以M2和M4为主,中位外周血和骨髓嗜碱粒细胞比例、巨核细胞数低于典型CML-MBC患者.免疫表型均为髓系表达,表达CD34者8例(66.7％).11例患者检测到t(9;22),伴附加染色体异常5例(45.5％),其中1例为inv(16).12例患者均检测到BCR-ABL融合基因,e1a2型3例(25.0％),余为b2a2/b3a2型,其中1例伴有CBFβ-MYH11表达.6例受检患者中2例存在AML常见突变,其中CEBPA突变1例,FLT3-TKD突变1例.诱导治疗完全缓解(CR)7例(58.3％),7例接受化疗联合酪氨酸激酶抑制剂(TKI)者6例CR,3例接受单独化疗者l例CR.总体中位生存期16.5个月,异基因造血干细胞移植(allo-HSCT)组为33.5个月,高于非移植组(5.5个月).结论 e1a2型融合基因、与AML常见融合基因共表达、存在AML常见突变有利于Ph/BCR-ABL-AML诊断;此类患者诱导缓解率低,生存期短,化疗联合TKI获得缓解后尽早行allo-HSCT是改善其生存的唯一有效途径.
목적 탐토유리우Ph염색체화(혹)BCR-ABL융합기인양성급성수계백혈병(Ph/BCR-ABL+ AML)진단적림상화실험실특정.방법 수집2006년2월지2013년12월수치적12례Ph/BCR-ABL+ AML환자자료,이전형만성수성백혈병급수변(CML-MBC)환자위대조조,회고성분석량자림상급실험실특정,병수방생존정황.결과 12례환자중위년령27.5세,무혹경도비장종대자10례(83.3％),FAB분형이M2화M4위주,중위외주혈화골수기감립세포비례、거핵세포수저우전형CML-MBC환자.면역표형균위수계표체,표체CD34자8례(66.7％).11례환자검측도t(9;22),반부가염색체이상5례(45.5％),기중1례위inv(16).12례환자균검측도BCR-ABL융합기인,e1a2형3례(25.0％),여위b2a2/b3a2형,기중1례반유CBFβ-MYH11표체.6례수검환자중2례존재AML상견돌변,기중CEBPA돌변1례,FLT3-TKD돌변1례.유도치료완전완해(CR)7례(58.3％),7례접수화료연합락안산격매억제제(TKI)자6례CR,3례접수단독화료자l례CR.총체중위생존기16.5개월,이기인조혈간세포이식(allo-HSCT)조위33.5개월,고우비이식조(5.5개월).결론 e1a2형융합기인、여AML상견융합기인공표체、존재AML상견돌변유리우Ph/BCR-ABL-AML진단;차류환자유도완해솔저,생존기단,화료연합TKI획득완해후진조행allo-HSCT시개선기생존적유일유효도경.
Objective To explore the clinical and laboratory characteristics in favor of the diagnosis of Ph/BCR-ABL positive acute myeloid leukemia (Ph/BCR-ABL + AML).Methods Retrospectively analyzed the clinical and laboratory characteristics of 12 Ph/BCR-ABL+ AML cases from Feb,2006 to Dec,2013,with classic myeloid blast crisis of chronic myeloid leukemia (CML-MBC) as control,and followed-up the survival in these two cohorts of patients.Results The median age of 12 Ph/ BCR-ABL + AML was 27.5 years,10 cases (83.3％) showed non/mild splenomegaly,and mainly comprised of M2 and M4 subtypes according to FAB classification.The median number of basophils and megakaryocytes in peripheral blood and bone marrow was lower than that of CML-CBC patients.All the cases expressed myeloid antigens,8 cases (66.7％) expressed CD34,11 cases were detected with t (9;22),5 cases (45.5％) with additional chromosomal abnormalities,including 1 case of inv(16).All the cases had BCR-ABL transcripts at diagnosis:3 (25.0％) cases were ela2type and the remaining was b2a2/ b3a2type,among which 1 case coexpressed CBFβ-MYH1 1.Two out of 6 cases existed AML-like mutations:1 case of CEBPA and the other of FLT3-TKD.For all the patients,7 cases achieved complete remission (CR),including 6 out of 7 cases receiving induction chemotherapy combined with tyrosine kinase inhibitor (TKI) achieved CR,and 1 out of 3 cases receiving chemotherapy alone achieved CR.The median overall survival was 16.5 months,that of allo-HSCT group was 33.5 months,which was higher than that of non-HSCT group (5.5 months).Conclusions The expression of ela2type BCR-ABL,the coexpression of fusion genes which were more common in AML,the existence of AML-like mutations were all indications of a de novo Ph/BCR-ABL+ AML.Low induction CR rate and short survival of Ph/ BCR-ABL+ AML implied that chemotherapy combined with TKI and followed by allo-HSCT in CR was the only effective way to improve their survival.