Advanced systemic mastocytosis: the impact of KIT mutations in diagnosis, treatment, and progression.

ABSTRACT: Apart from indolent systemic mastocytosis (SM), which is associated with a favorable prognosis, other subtypes of SM (SM with associated clonal hematologic non-mast cell lineage disease, aggressive SM, and mast cell leukemia - collectively referred to in this review as advanced SM) can be debilitating. The complexity of SM makes both the diagnosis and design of response criteria challenging for clinical studies. The tyrosine kinase KIT has been shown to play a crucial role in the pathogenesis of SM and has been a focal point in the development of targeted therapy. Mutations within various domains of the KIT receptor that lead to constitutive activation have been identified in patients, and those involving the activation loop of the KIT receptor are the mutations most frequently detected in

SUBMITTER: Verstovsek S 

PROVIDER: S-EPMC3761194 | biostudies-literature | 2013 Feb

REPOSITORIES: biostudies-literature