TEL—AML1阳性及阴性儿童急性淋巴细胞白血病基因重排的特点分析

Comparative Study on Gene Rearrangement between TEL-AML1 Postive and Negative Childhood Acute Lymphoblastic Leukemia

目的比较TEL—AML1融合基因阳性及阴性急性淋巴细胞白血病（ALL）患儿的基因重排特点和其临床特点。方法儿童ALL患儿111例，应用多重PCR技术检测IgH、IgK、TCR1基因重排，双色间期FISH检测TEL—AML1／t（12；21）融合基因。分析不同TEL—AML1基因型与基因重排的相关性。结果在41例TEL—AML1阳性儿童ALL患儿中，多数年龄介于2～10岁，其中3～5岁比例最高；与儿童B系ALLTEL—AML1阴性组相比，TEL—AML1阳性患儿Ig κ和TCRγ的基因重排阳性率增高分别为54％（22／41）和71％（29／41），两者差异有统计学意义（P分别为0．001、0．007），但IgH重排和至少发生一个重排均无显著差异。结论t（12；21）是儿童ALL最常见的染色体易位，具有与TEL／AML1融合基因共存的亚克隆，该特点可作为微小残留病的辅助检测，值得在临床中推广使用。

Objective To compare gene rearrangement and clinical features between TEL-AML1 positive and negative patients, in childhood acute lymphoblastic leukemia （ALL）.Methods In 111 childhood ALL, Ig/TCR gene rearrangement by multiplex PCR were amplified and detected,TEL-AML1/t （12;21）fusion gene was examined by dual colour interphase fluorescence in situ hybridization.Results In 41 patients with TEL-AML1 positive ALL,the majority of patients with TEL-AML 1 positive ALL was between 2-10 years old,with a peak incidence at 3-5 years; compared with TEL—AML1 negetive group;In TEL-AML1 positive ALL, the positive of Ig κ： and TCR γgene rearrangement were higher （54%,22/41） and （71%,29/41） respectively.No significant difference was found in IgH gene rearrangement and at least one clonal rearrangement.Conclusion t （12;21） was the most common chromosomal translocation in childhood ALL.The coexistence of different subclones at diagnosis have special characteristics. These characteristics may be useful in detection of minimal residual disease and it is worth being extensively used in clinical researches.