Phenotypic and genotypic characteristics of mastocytosis according to the age of onset.

摘要: Adult's mastocytosis is usually associated with persistent systemic involvement and c-kit 816 mutation, while pediatrics disease mostly limited to the skin often resolves spontaneously. We prospectively included 142 adult patients histologically proven mastocytosis. compared phenotypic genotypic features of adults whose started during childhood (Group 1, n = 28) those at adult's age 2, 114). Genotypic analysis was performed on biopsy by sequencing exons 17 8 13. According WHO classification, percentage similar (75 vs. 73%) in 2 groups. C-kit mutation found 42% 77% groups 1 respectively (p<0.001). group (87% 45% cutaneous mastocytosis, p 0.0001). Other activating mutations were 23% mastocytosis' onset before 5, 0% between 6 15 years 2% adults' In conclusion, pathogenesis significantly differs according disease's onset. Our data may have major therapeutic relevance when considering c-kit-targeted therapy.