Novel KIT mutation, D816_N819delinsll, in a patient with systemic mastocytosis: a case report.

Abstract excerpt

Mast cell (MC) disorders result from inappropriate release of mediators and/or excessive accumulation of MCs, leading to symptoms of various organs and systems. Clonal MC disorders are defined by the presence of phenotypically aberrant and/or KIT-mutated MCs, and if aggregates of MCs are detectable, are designated as mastocytosis. Systemic mastocytosis (SM) affects mainly the bone marrow, with or without skin...

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• DNA Mutational Analysis
• KIT gene
• Mastocytosis, Systemic
• Mutation
• Proto-Oncogene Proteins c-kit