婴儿急性白血病的临床和分子生物学特点

目的　对 2岁以下的婴儿急性白血病作临床和分子生物学特点的研究。方法　用R带和 (或 )G带分带技术进行核型分析 ,DNA印迹法检测HRX重排 ,聚合酶链反应和逆转录 聚合酶链反应进行融合基因检测。结果　 2 0例患者经检测后其中 10例有HRX基因重排 ,该 10例作融合基因检测 ,5例是AF 4 HRX ,2例是AF 9 HRX ,1例是HRX ENL ,1例是HRX自我融合 ,1例是未曾报告过的命名为HRX EEN的融合基因。结论　婴儿急性白血病有高发的HRX基因重排 ,尤其以形成AF 4 HRX融合基因更多见 (5 0 % ) ,这对指导临床治疗和进一步的病因学研究有重要意义。

Study on clinical and molecular biological characteristics of infant acute leukemia

Objective To study the clinical and molecular biological characteristics of infant acute leukemia (IAL). Methods R and/or G banding technique was used for analysis of karyotype. DNA blotting for HRX gene rearrangement, and polymerase chain reaction (PCR) and reverse transcriptase PCR (RT PCR) for fusion gene detection. Results Twenty cases of IAL were detected. HRX gene rearrangement was found in 10 cases, including HRX/AF 4 fusion gene in 5, HRX/AF 9 fusion in 2, and HRX/ENL fusion in 1, HRX self fusion mediated by alu repeat homologous recombination and HRX/EEN fusion each in one (HRX/EEN is a novel fusion gene reported for the first time). Conclusion High frequency of HRX gene rearrangement occured in IAL,which is characterised by a massive leukemia cell burden and 11q23 translocation, forming fusion genes, especially HRX/AF 4 (about 50%). The results are of important significance in guiding clinical treatment and approaching the etiology of IAL.