人类急性巨核细胞白血病中的激活突变

Activating mutations in human acute megakaryoblastic leukemia
2009-08-03 17:44点击:6764次发表评论
作者:LohY-H, Agarwal S, Park I-H 【View at publisher】
期刊: BLOOD2008年8月期卷 专家评级: 循证评级:D

Oncogenic activation of tyrosine kinase signaling pathway is recurrent in human leukemia. To gain insight into the oncogenic process leading to acute megakaryoblastic leukemia (AMKL), we performed sequence analyses of a subset of oncogenes known to be activated in human myeloid and myeloproliferative disorders. In a series of human AMKL samples from both Down syndrome and non–Down syndrome patients, mutations were identified within KIT, FLT3, JAK2, JAK3, and MPL genes, with a higher frequency in DS than in non-DS patients. The novel mutations were analyzed using BaF3 cells, showing that JAK3 mutations were activating mutations. Finally, we report a novel constitutively active MPL mutant, MPLT487A, observed in a non–Down syndrome childhood AMKL that induces a myeloproliferative disease in mouse bone marrow transplantation assay.
 

学科代码:肿瘤学   关键词:人类急性巨核细胞白血病中的激活突变
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