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Recent advances in the understanding of mastocytosis: the role of KIT mutations *
Author(s) -
Orfao Alberto,
GarciaMontero Andrés C.,
Sanchez Laura,
Escribano Luis
Publication year - 2007
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.2007.06619.x
Subject(s) - systemic mastocytosis , mast cell , proto oncogene proteins c kit , stem cell factor , biology , signalling pathways , disease , immunology , stem cell , medicine , signal transduction , genetics , haematopoiesis , pathology
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.