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

By 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 and Olivier Lortholary


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

Topics: Research Article
Publisher: Public Library of Science
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Provided by: PubMed Central
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