Title: Activating mutations in human acute megakaryoblastic leukemia
Authors: Malinge, Sébastien ×
Ragu, Christine
Della-Valle, Veronique
Pisani, Didier
Constantinescu, Stefan N
Perez, Christelle
Villeval, Jean-Luc
Reinhardt, Dirk
Landman-Parker, Judith
Michaux, Lucienne
Dastugue, Nicole
Baruchel, André
Vainchenker, William
Bourquin, Jean-Pierre
Penard-Lacronique, Virginie
Bernard, Olivier A #
Issue Date: Nov-2008
Publisher: W.B. Saunders
Series Title: Blood vol:112 issue:10 pages:4220-4226
Abstract: 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.
ISSN: 0006-4971
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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