Erschienen in:
Dermatology, 226 (2013) 3, Seite 233-237
Sprache:
Englisch
DOI:
10.1159/000349986
ISSN:
1018-8665;
1421-9832
Entstehung:
Anmerkungen:
Beschreibung:
<b><i>Background:</i></b> Most adults with systemic mastocytosis (SM) carry the somatic <i>KIT</i> D816V mutation, but the occurrence of the mutation in lesional skin remains to be characterized. <b><i>Objective:</i></b> To assess the distribution and fraction of <i>KIT</i> D816V mutation-positive cells in lesional skin. <b><i>Methods:</i></b> Lesional skin biopsies from 29 adults with SM were analysed using sensitive and quantitative qPCR <i>KIT</i> D816V mutation analysis. <b><i>Results:</i></b> The <i>KIT</i> 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%). <b><i>Conclusion:</i></b> The <i>KIT</i> 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.