Meta-Biol

• Pathways

Activating kinase domain mutants of KIT are constitutively active in the absence of ligand and can be tyrosine phosphorylated in the absence of dimerization (Furitsu et al, 1993; Hirota et al, 1998; Tsujimura et al, 1994). These mutations, which are encoded in exons 13, 14 and 17, are present at low frequency in AML, myeloma and germ cell tumors, as well as myeloproliferative disorders and mastocytosis, and occur as primary oe secondary resistance mutations in imatinib-treated gastrointestinal stromal tumors (reviewed in Antonescu, 2006; Roskoski, 2018; Corless et al, 2011).