婴儿B急性淋巴细胞白血病（B-ALL）占儿童ALL的10%，80%婴儿B-ALL是由于MLL基因重排（MLL-r） 引起的。MLL-r婴儿ALL总体生存率 ＜ 35%。在MLL-r婴儿ALL中，染色体t（4;11）形成的MLL-AF4（MA4）融合基因阳 性的患儿的预后更差。同卵双生子和出生留存的血斑研究证实，MA4融合基因起源于产前，全基因组测序发现t（4;11）单 独即可引发白血病。文章将综述正常MLL基因及伴MA4婴儿B-ALL的临床特征、细胞起源、基因组学及疾病模型等生物 学特征研究进展。

Infant acute lymphoblastic leukemia B (B-ALL) accounts for 10% of childhood ALL. Eighty percent of infant B-ALL was caused by MLL gene rearrangement (MLL-r). The overall survival rate of ALL was less than 35% in infants with MLL-r. Among infant ALL with MLL-r, infants with positivefusion gene MLL-AF4 (MA4) formed by chromosome t (4;11) had even poor prognosis. Studies in monozygotic twins and archived blood spot at birth had verified that fusion gene MA4 originated from antenatal. Whole genome sequencing found that t (4;11) alone might be sufficient to spawn leukemia. This paper is going to summarize the advances in biological characteristics such as clinical features, cellular origin, genomics and disease models of  normal MLL gene and infant  B-ALL with MA4.