BACKGROUND: Most adults with systemic mastocytosis (SM) carry the somatic KIT D816V mutation, but the occurrence of the mutation in lesional skin remains to be characterized.OBJECTIVE: To assess the distribution and fraction of KIT D816V mutation-positive cells in lesional skin.METHODS: Lesional skin biopsies from 29 adults with SM were analysed using sensitive and quantitative qPCR KIT D816V mutation analysis.RESULTS: The KIT D816V mutation was detected in skin in all cases. Highly similar mutation levels were observed in all patients with a median of 5% mutation-positive cells in the skin (range 1-23%).CONCLUSION: The KIT D816V mutation is consistently present in lesional skin in adults with SM. The low variation in mutation levels detected in lesional skin contrasts blood and bone marrow where mast cell (MC) progenitor and non-MC lineage involvement causes the mutation-positive cell fraction to be highly variable.
Biopsy DNA Mutational Analysis