Recent advances in the understanding of mastocytosis: the role of KIT mutations

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 ke...

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Bibliographic Details
Published in:British journal of haematology 2007-07, Vol.138 (1), p.12-30
Main Authors: Orfao, Alberto, Garcia‐Montero, Andrés C., Sanchez, Laura, Escribano, Luis
Format: Article
Language:English
Subjects:
Benzamides
Biological and medical sciences
Cell Proliferation
Cell Survival
Gene Expression Regulation, Neoplastic
Hematologic and hematopoietic diseases
imatinib
Imatinib Mesylate
KIT mutations
Mast Cells - pathology
Mastocytosis
Mastocytosis - genetics
Mastocytosis - metabolism
Mastocytosis - pathology
Medical sciences
Mutation
Piperazines - therapeutic use
Protein Kinase Inhibitors - therapeutic use
Proto-Oncogene Proteins c-kit - genetics
Proto-Oncogene Proteins c-kit - metabolism
Pyrimidines - therapeutic use
SCF/Kit signalling pathway
Signal Transduction - genetics
tyrosine kinase inhibitors
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Summary: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.
ISSN:0007-1048
1365-2141
DOI:10.1111/j.1365-2141.2007.06619.x