All authors have contributed equally to this manuscript.
Recent advances in the understanding of mastocytosis: the role of KIT mutations*
Article first published online: 6 JUN 2007
British Journal of Haematology
Volume 138, Issue 1, pages 12–30, July 2007
How to Cite
Orfao, A., Garcia-Montero, A. C., Sanchez, L. and Escribano, L. (2007), Recent advances in the understanding of mastocytosis: the role of KIT mutations. British Journal of Haematology, 138: 12–30. doi: 10.1111/j.1365-2141.2007.06619.x
- Issue published online: 6 JUN 2007
- Article first published online: 6 JUN 2007
- SCF/Kit signalling pathway;
- KIT mutations;
- tyrosine kinase inhibitors
Mastocytosis is a heterogeneous disorder characterised by the expansion and accumulation of mast cells in different organs and tissues. Mast cell physiology is closely dependent on activation of the stem cell factor/Kit signalling pathways and accumulating evidences confirm the physiopathological key role of activating KIT mutations (typically D816V) in mastocytosis and their relationship with the clinical manifestations of the disease. This paper reviews the most recent advances in the understanding of the molecular mechanisms associated with KIT mutations in mastocytosis, including recent data about the use of new therapies targeting the Kit molecule and its associated downstream signalling pathways.