Cytogenetic and molecular genetic abnormalities in systemic mastocytosis

Clonal cytogenetic abnormalities similar to those observed in other haematological neoplasms are demonstrable in a proportion of patients with systemic mastocytosis and in a smaller proportion of adults with urticaria pigmentosa without apparent systemic disease. These clonal abnormalities are not likely to represent the primary event in mast cell neoplasms. Although no recurrent cytogenetic abnormalities specific for mastocytosis have yet been recognized, the majority of cases display one of several mutations in c-KIT, the gene encoding the receptor for stem cell factor. That most commonly observed is the Asp816Val mutation, which permits proliferation independent of growth factors. c-KIT mutations may play a significant role in the biology of mast cell malignancies, although other mutations may be needed for a malignant phenotype.