Phenotypic and Genotypic Characteristics of Mastocytosis According to the Age of Onset

• DOI: 10.1371/journal.pone.0001906
• Publication Date: 2008-04-08T21:09:15Z
• Authors: Fanny Lanternier; Annick Cohen-Akenine; Fabienne Palmerini; Frédéric Feger; Ying Yang; Yael Zermati; Stéphane Barète; Beatrix Sans; Cédric Baude; David Ghez; Felipe Suarez; Richard Delarue; Philippe Casassus; Christine Bodemer; Adeline Catteau; Frédérique Soppelsa; Katia Hanssens; Michel Arock; Hagay Sobol; Sylvie Fraitag; Danièle Canioni; Alain Moussy; Jean Marie Launay; Patrice Dubreuil; Olivier Hermine; Olivier Lortholary
• Keywords: Cutaneous Mastocytosis; Urticaria pigmentosa; Pathogenesis; Skin biopsy

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.