2016年6月15日，Nature旗下的血液学权威期刊Leukemia（影响因子: 12.104）以研究论文（original article）的形式在线发表了我院吴德沛教授、陈苏宁教授研究团队关于急性红白血病的最新研究成果“Exomesequencing identifies highly recurrent somatic GATA2 and CEBPA mutations inacute erythroid leukemia.”。急性红白血病（AEL）是急性髓细胞白血病（AML））中的特殊类型，其分子生物学特征尚不清晰。该研究应用多种高通量基因组学技术，对AEL进行了深入研究，发现AEL与AML相比，具有独特的临床、细胞遗传学和基因组学特征，并发现转录因子GATA2和CEBPA突变为AEL区别于AML的重要分子特征，GATA2突变体在体外可造成转录活性下降和红细胞相关抗原的表达上调。

原文摘要：Acute erythroid leukemia (AEL),characterized by a predominant erythroid proliferation, is a subtypeof acute myelogenous leukemia. The genetic basis of AEL remainspoorly defined. Through whole-exome sequencing, we identified highfrequencies of mutations in CEBPA (32.7%), GATA2(22.4%),NPM1 (15.5%), SETBP1 (12.1%) and U2AF1 (12.1%). Structure prediction analysisrevealed that most of the GATA2 mutations were located at theDNA-binding N-terminal zinc-finger near the DNA-binding interface, suggestingthat mutations could result in at least partial inactivationof GATA2 protein. On co-transfection of a GATA-responsive reporterconstruct together with plasmids expressing either GATA2 wild-typeor GATA2 ZF1 mutants (P304H, L321P and R330X) in 293T cells, we founda reduced transcriptional activation in cells transfectedwithGATA2 mutants. To determine whether reduced GATA2 functionis involved in leukemogenesis of AEL, we transfected 32D cellswith GATA2mutants and evaluated the impactof GATA2 mutations on erythroid differentiation. Ourdata revealed an increased expression of erythroid-related antigensTer-119, β-globin and βh1-globin, as well as increased hemoglobin positivity in32D cells transfected with GATA2 mutants compared with control cells.Our results suggest that the decline of GATA2 resulting from mutations contributesto the erythroid commitment, differentiation and the development ofAEL.