Abstract
Mastocytosis is a rare disease characterized by the pathological hyperplasia of mast cells in various tissues. Recent studies have demonstrated that all adult patients express activating mutation (Asp816Val) of c-kit coding the receptor for stem cell factor (SCF), leading to SCF-independent autophosphorylation of the receptor and autonomous cell growth. On the other hand, pediatric patients usually lack this mutation. As mature mast cells distributed in peripheral tissues have a potential for proliferation with SCF, it is possible that local excessive production of SCF results in the mast cell proliferation in pediatric patients. Since no curative treatments are available, avoidance of exposure to mast cell secretary stimuli and symptomatic treatment remain the mainstays of current patient management. STI571, a recently discovered inhibitor of tyrosine kinase, inhibits kinase activity of wild-type Kit. Even though it has no effect on the activity of the Asp816Val mutant, STI571 could be potentially used in pediatric patients without c-kit mutation.
