Article
Molecular defects in mastocytosis: KIT and beyond KIT.
Immunology and allergy clinics of North America - 1 May 2014
Bibi Siham, Langenfeld Florent, Jeanningros Sylvie, Brenet Fabienne, Soucie Erinn, Hermine Olivier, Damaj Gandhi, Dubreuil Patrice, Arock Michel
Abstract excerpt
In all variants of mastocytosis, activating KIT mutations are frequently found. In adults, neoplastic mast cells (MCs) cells show the KIT mutation D816V, whereas in children, MCs invading the skin are frequently positive for non-KIT D816V mutations. The clinical course and prognosis of the disease vary among patients with systemic mastocytosis (SM). Additional KIT-independent molecular defects might cause...
Topics
- Bone Marrow
- Cell Proliferation
- DNA-Binding Proteins
- Dioxygenases
- Exons
- Gene Expression Regulation, Neoplastic
- Hematologic Neoplasms
- Humans
- Mast Cells
- Mastocytosis
- Mutation