成人ALL 与儿童ALL 患者在八探针荧光原位杂交技术的细胞遗传学差异  

Cytogenetic differences between adults and children with acute lymphocytic leukemia in fluorescence in situ hybridization with eight probes

作　　者：黄燕[1] 黄倩雯 刘勇[1] 陈海雷 沈妙娜 阮嘉钰 林晓英 Huang Yan;Huang Qianwen;Liu Yong;Chen Hailei;Shen Miaona;Ruan Jiayu;Lin Xiaoying Sun Yat-Sen(Memorial Hospital,Sun Yat-Sen University,Guangzhou 510120,China)

机构地区：[1]中山大学孙逸仙纪念医院,广州510120

出　　处：《国际医药卫生导报》2020年第18期2724-2728,共5页International Medicine and Health Guidance News

摘　　要：目的利用八探针荧光原位杂交技术(Fluorescence in situ hybridization,FISH)比较成人ALL与儿童ALL细胞遗传学的差异。方法回顾性分析2016年1月至2019年6月在本院住院治疗的急淋患儿275例,本院住院治疗的成人急淋患者66例;应用八探针荧光原位杂交技术(CMYC、P16、E2A、CHIC2/D10Z1/D17Z1、TEL/AML1、MLL、BCR/ABL与IGH的DNA探针),比较其细胞遗传学差异。结果八探针FISH技术共检出成人ALL 37例异常,总阳性率为56.06%;儿童ALL共检测出153例异常,总阳性率为55.63%,二者检测阳性率比较,差异无统计学意义(P>0.05);成人ALL中,CMYC断裂基因阳性率3.03%、P16缺失阳性率16.67%、MLL断裂基因阳性率6.06%、BCR/ABL融合基因阳性率21.21%、IGH断裂基因阳性率7.58%,均高于儿童ALL;儿童ALL中,E2A断裂基因阳性率5.09%、CHIC2/D10Z1/D17Zl多倍体八探针阳性率14.55%、TEL/AMLl融合基因阳性率15.27%,均高于成人ALL;其中BCR/ABL融合基因、CMYC断裂基因、CHIC2/D10Z1/D17Zl多倍体、TEL/AMLl融合基因、IGH断裂基因在成人ALL与儿童ALL之间比较,差异均有统计学意义(均P<0.05)。结论成人ALL与儿童ALL在遗传学上异常分布各有不同,其预后也不同,八探针FISH技术具有高效、省时、灵敏等优点。临床上ALL患者初诊时检测八探针荧光原位杂交技术可以1次检测出多种异常,为临床个体化治疗提供更多的依据。Objective To explore the cytogenetic differences between adults and children with acute lymphocytic leukemia(ALL)in fluorescence in situ hybridization(FISH)with eight probes.Methods 275 children and 66 adults with ALL who were treated at our hospital from January,2016 to June,2019 were retrospectively analyzed.FISH with 8 probes(CMYC,P16,E2A,CHIC2 D10Z1/D17Z1,TEL/AML1,MLL,BCR/ABL,and IGH DNA probes)was applied.The cytogenetic differences were compared.Results A total of 37 adult ALL cases were detected with abnormality by 8-probe FISH,with a total positive rate of 56.06%;a total of 153 abnormalities were detected in the children,with a total positive rate of 55.63%;there was no statistical difference(P>0.05).The positive rates ALL CMYC gene,loss of P16,MLL gene,BCR/ABL fusion gene,and IGH gene were 3.03%,16.67%,6.06%,21.21%,and 7.58%in the adults,which were higher than those in the children.The positive rates of E2A fracture gene,CHIC2/D10Z1/D17Zl polyploidy,and TEL/AMLl fusion gene were 5.09%,14.55%,and 15.27%in the children,which were higher than those in the adults.There were statistical differences in BCR/ABL fusion gene,CHIC2/D10Z1/D17Zl polyploid,TEL/AMLl fusion gene,and IGH broken gene between the adults and the children(all P<0.05).Conclusion The abnormal distribution of ALL in adults and children is different,and the prognosis is different.FISH with 8 probes has the advantages of high efficiency,time-saving,and sensitivity.FISH with 8 probes can detect a variety of abnormalities at the first diagnosis of ALL patients in clinical practice,which provides more evidences for clinical individualized treatment.

关 键 词：荧光原位杂交 急性淋巴细胞白血病 八探针FISH 

分 类 号：R733.71[医药卫生—肿瘤]