2014年2月9日,Nature Genetics在线发表由中国医学科学院血液学研究所等多个团队合作完成的研究成果。他们通过对一个混合谱系白血病(MLL)患者及其正常同卵双胞胎的血细胞进行全基因组测序,发现了罕见的功能性MLL-NRIP3致癌基因和H3K36三甲基化的组蛋白甲基转移酶SETD2的遗传突变。该研究表明SETD2是白血病的新抑癌基因,而且SETD2-H3K36me3通路的功能破坏是白血病发生发展的一种新 February 9, 2014, Nature Genetics online research published by the Chinese Academy of Medical Sciences Institute of Hematology and other teams completed the research results. They conducted a genome-wide sequencing of blood cells from a mixed lineage leukemia (MLL) patient and their normal identical twins and found that rare functional MLL-NRIP3 oncogenes and the H3K36 trimethylated histone methyltransferase SETD2 Genetic mutation. The study shows that SETD2 is a novel tumor suppressor gene for leukemia and the functional disruption of SETD2-H3K36me3 pathway is a new type of leukemia