儿童t(8;21)急性髓系白血病的细胞遗传学特点及预后分析

Cytogenetic characteristics and clinical outcome of t(8;21) childhood acute myeloid leukemia

目的探讨伴有t(8;21)的儿童急性髓系白血病(AML)的细胞遗传学特点及预后意义。方法回顾性分析我院检测的85例伴有t(8;21)的儿童AML的细胞遗传学及荧光原位杂交(FISH)结果,分析其与临床预后的关系。结果单纯t(8;21)(q22;q22)占25.9%(22/85),伴有附加异常74.1%(63/85)。附加异常中:单纯性染色体丢失占46.0%(29/63),9q-占15.9%(10/63),+4占6.3%(4/63),四倍体(4N)占7.9%(5/63),变异易位占12.7%(8/63),其它异常占11.1%(7/63)。85例中30例行FISH检测,结果均为阳性。23例信号特征显示典型的t(8;21)阳性信号(2Y1R1G),5例为变异易位信号(1Y2G2R)患者,2例为多倍体信号特点(4Y2G2R,3Y2G1R)。16例多次FISH结果中,阳性转阴性的12例,阴性转阳性的2例(初诊没做FISH),2例多次均为阳性。本组85例患者中,59例在本院接受治疗,55例患者获得完全缓解,患者的缓解率为93.2%(55/59),+4组和4N组的治疗效果较差。本组总的中位生存期为16个月。+4、4N和伴有其它异常的三组预后较差,中位生存期小于1年。4N组中位生存期明显短(P=0.0039)。四倍体核型在儿童组的发生率明显高于成人组(χ2=5.48,P<0.05)。结论附加异常中+4和四倍体的预后较差,四倍体核型在儿童患者中多见。核型和FISH检测可同时应用于儿童t(8;21)AML的诊断和预后监测。

Objective To investigate the cytogenetic and prognostic significance of childhood acute myeloid leukemia（AML） with t（8;21）. Methods A retrospective analysis including the cytogenetics , FISH and clinical outcome was performed on 85 cases of childhood t （8;21） AML. Results 22 cases （25. 9% ） were t（8 ;21 ） without additional aberrations, 63 eases（74. 1% ） were t（8;21 ） with additional aberrations. In the additional aberrations, loss of the sex chromosome were found in 29 eases（46. 0% ） ; Del（gq） was found in 10 cases （15.9%） ; ＋4was found in4 cases （6. 3% ） ; Tetraploidy clone（4N） was found in 5 cases （7.9%） ; Variant transloeation was found in 8 eases（ 12. 7% ）. 30 eases among 85 were studied by FISH, the results are all positive. Among these 30 cases, 23 eases displayed typical FISH signal pattern, 5 cases displayed variant signal, 2 cases displayed multiple signal. The childhood t （8 ;21 ） AML had a high remission rate（93.2% ）, the median overall survival was 16 months. Curative effect of ＋4 and 4N were not good. The median overall survival of 4N was significantly shorter than other patients （ P = 0. 0039） . Tetraploid clone was significantly higher in children than in alduhs （χ^2 = 5.48,P 〈 0.05 ）. Conclusion t（8 ;21 ） AML is also frequently associated with additional chromosome aberrations, ＋ 4 and 4N were unfavorable prognostic factors tional cytogenetics and FISH can be applied to , tetraploid clone was more frequent in children. Convendiagnose t（8 ;21 ）AML and monitor relapse.