儿童TEL-AML1阳性急性B系淋巴细胞白血病的临床特点及基因表达研究  

Study on clinical and cytogenetic characteristic of TEL-AML1-positive children with acute B lymphocytic leukemia

作　　者：熊枫[1] 黄慧[1] 樊金星 吴艳[1] 徐红艳[1] 曾松涛[1] 林媛媛[1] 杨文萍[1] XIONG Feng;HUANG Hui;FAN Jinxing(Department of Pathology,Children’s Hospital of JiangXi Province,Nanchang,Jiangxi,China)

机构地区：[1]江西省儿童医院病理科,江西南昌330006

出　　处：《实验与检验医学》2021年第6期1344-1347,共4页Experimental and Laboratory Medicine

基　　金：江西省卫生计生委科技计划,编号20165489。

摘　　要：目的探讨儿童TEL-AML1阳性急性B系淋巴细胞白血病的临床特点和分子遗传学特征。方法选取2016年1月至2017年12月我院收治的238例B系急性淋巴细胞白血病(B-ALL)患儿的骨髓或外周血标本,采用核型分析和荧光原位杂交技术进行检测并随访。结果238例B-ALL患儿中TEL-AML1阳性41例(17.2%),发病年龄在2~12岁,中位发病年龄为4岁;男女比例为1.05:1;TEL等位基因丢失15例(36.6%),与TEL-AML1阴性比较,TEL丢失多发生于TEL-AML1阳性病例中(P<0.05)。TEL-AML1、BCR-ABL、PBX1-TCF3、MLL和CMYC断裂均阴性的患儿有167例,AML1获得53例(31.7%),CMYC获得37例(22.2%),AML1扩增8例(4.7%),与TEL-AML1阳性比较,AML1和CMYC基因获得多发生于TEL-AML1阴性病例中(P<0.05),AML1扩增只发生在TEL-AML1基因阴性病例中。结论TEL-AML1阳性病例中存在基因拷贝数的异常表达;FISH技术能检测到核型分析不能检测到的基因表达异常,该技术有助于检测TEL-AML1阳性患儿中的AML1、TEL、CMYC等基因拷贝数异常,这些特征可为预后提供指导意义。Objective To study the clinical and cytogenetic characteristic in TEL-AML1-positve children with acute B lymphocytic leukemia.Methods We retrospectively selected a total of 238 children with acute B-lymphocytic leukemia(B-ALL)admitted to Children’s Hospital of JiangXi Province from January 2016 to December 2017 as subjects.Karyotype analysis and fluorescence in situ hybridization(FISH)were used to find TEL-AML1-positive children,we analyzed their clinical and cytogenetic characteristic,by comparing with TEL-AML1-negtive children.The follow-up period was ended in December 2020.Results TEL-AML1-positive was found in 41(17.2%)cases by FISH,the median age at diagnosis was 4(2-12)years,the ratio of male cases to female cases is 1.05:1;TEL allele deletion was found in 15(36.6%)of TEL-AML1-positive cases by FISH,it is higher compared with the negative group,the differences were statistically significant(P<0.05).TEL-AML1-negtive was found in 167 cases,which were also BCR-ABL,E2A-PBX1 fusion genes negative and MLL,CMYC rearrangements negative.Additional AML1 and CYMC signals were detected in 53(31.7%)and 37(22.2%)TEL-AML1-negtive cases respectively,compared with the TEL-AML1-postive group,the differences were statistically significant(P<0.05).Eight cases which had multiple AML1 signals were found only in TEL-AML1-negtive group.Conclusion Many cytogenetic aberrations were detected in TEL-AML1-positive cases,they could be detected by FISH,which is more sensitive than karyotype analysis.By detecting these aberrations,e.g.additional AML1 and CMYC signals,TEL allele deletion,it is helpful to evaluate their potential biological and prognostic relevance.

关 键 词：儿童急性淋巴细胞白血病 TEL-AML1 荧光原位杂交 

分 类 号：R733.7[医药卫生—肿瘤]