期刊
BLOOD
卷 112, 期 10, 页码 4220-4226出版社
AMER SOC HEMATOLOGY
DOI: 10.1182/blood-2008-01-136366
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资金
- Association pour la Recherche sur le Cancer (ARC)
- Institut National du Cancer (INCa)
- Fonds National de la Recherche Scientifique
- Fondation contre le cancer
- Fondation Salus Sanguinis
- University catholique de Louvain, Brussels [MEXP31C1]
- Fondation contre le Cancer, Brussels
- PAI Program Belgium [BCHM61B5]
- Atlantic Philantropies/Ludwig Institute for Cancer Research Clinical Discoveries Program
- Fondation pour la Recherche Medicale and Societe Francaise d' Hematologie
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. (Blood. 2008; 112: 4220-4226)
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