He Jun, Chen Zi-Xing, Xue Yong-Quan, Pan Jin-Lan, He Hai-Long, Li Jian-Qin, Wu Ya-Fang, Huang Yi-Ping, Zhu Ling-Li
Jiangsu Institute of Hematology, First Hospital, Soochow University, Suzhou, China.
Zhonghua Xue Ye Xue Za Zhi. 2005 Aug;26(8):477-80.
To study the clinical and laboratory features of childhood acute leukemia (AL) with MLL gene rearrangements.
Sixteen of 298 cases of childhood AL with MLL rearrangements were studied by using MLL dual-color FISH, multiplex RT-PCR with 13 pairs of primers in combination with R banding karyotype analysis and cell immunophenotyping by flow cytometry.
Sixteen cases of childhood AL with MLL rearrangements accounted for 5.4% of 298 AL patients, and 56.3% of infant ALs. Among 106 cases analyzed by multiplex RT-PCR, MLL gene rearrangements were found in 11 cases, including MLL/AF4 fusion gene in 2, MLL/AF6 fusion gene in 1, MLL/AF6 and MLL/ELL combined with MLL/ AFX or HOX11 in one case each, MLL/AF9 in 2, MLL/AF10 in 1, MLL/ELL in 2. MLL partial tandem duplication in 1 and activated HOX11 in 1. In 27 cases assayed by FISH, 9 cases (36.0%) were demonstrated MLL gene rearrangements. In 16 patients with MLL gene rearrangements, 14 (87.5%) exhibited clonal chromosome abnormalities involved chromosome 11 in 11 cases: being t(4;11) in 2, t(6;11), t(8;11), t(7;8;11), t(9;11) in each trisomy 11 in 2 and 11q--in 3 cases. Among these 16 patients, 11 were B-ALL, and 5 AML-M5, 3 of the latter were CD7+ and CD2+. Of these 16 patients, 8 received chemotherapy and 7 of them achieved complete remission, while the other 8 patients gave up treatment.
Multiplex RT-PCR combined with FISH provided a more accurate and sensitive method for detection of MLL gene rearrangements. Finding out MLL gene rearrangement is of most importance in guiding therapy and predicting prognosis in childhood AL.
研究伴有MLL基因重排的儿童急性白血病(AL)的临床及实验室特征。
采用MLL双色荧光原位杂交(FISH)、13对引物多重逆转录聚合酶链反应(RT-PCR)联合R显带核型分析及流式细胞术进行细胞免疫表型分析,对298例伴有MLL重排的儿童AL中的16例进行研究。
16例伴有MLL重排的儿童AL占298例AL患者的5.4%,占婴儿AL的56.3%。在106例采用多重RT-PCR分析的病例中,发现11例存在MLL基因重排,其中2例为MLL/AF4融合基因,1例为MLL/AF6融合基因,1例为MLL/AF6和MLL/ELL合并MLL/AFX或HOX11,2例为MLL/AF9,1例为MLL/AF10,2例为MLL/ELL,1例为MLL部分串联重复,1例为激活的HOX11。在27例采用FISH检测的病例中,9例(36.0%)显示有MLL基因重排。16例MLL基因重排患者中,14例(87.5%)表现为克隆性染色体异常,其中11例涉及11号染色体:2例为t(4;11),各1例为t(6;11)、t(8;11)、t(7;8;11)、t(9;11),2例为11号染色体三体,3例为11q-。这16例患者中,11例为B淋巴细胞白血病(B-ALL),5例为急性髓系白血病M5型(AML-M5),其中3例AML-M5型患者CD7+和CD2+阳性。这16例患者中,8例接受化疗,7例获得完全缓解,另外8例放弃治疗。
多重RT-PCR联合FISH为检测MLL基因重排提供了一种更准确、灵敏的方法。发现MLL基因重排在指导儿童AL的治疗及预测预后方面至关重要。