title: Phenotypic and genotypic characteristics of mastocytosis according to the age of onset.
abstract: 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.
authors.affiliation: Université Paris V, Service de maladies infectieuses et tropicales, Centre de référence des mastocytoses, Hôpital Necker Enfants malades, Centre d'Infectiologie Necker-Pasteur, Paris, France.
authors.forename: Fanny
authors.initials: F
authors.lastname: Lanternier
authors.forename: Annick
authors.initials: A
authors.lastname: Cohen-Akenine
authors.forename: Fabienne
authors.initials: F
authors.lastname: Palmerini
authors.forename: Frédéric
authors.initials: F
authors.lastname: Feger
authors.forename: Ying
authors.initials: Y
authors.lastname: Yang
authors.forename: Yael
authors.initials: Y
authors.lastname: Zermati
authors.forename: Stéphane
authors.initials: S
authors.lastname: Barète
authors.forename: Beatrix
authors.initials: B
authors.lastname: Sans
authors.forename: Cédric
authors.initials: C
authors.lastname: Baude
authors.forename: David
authors.initials: D
authors.lastname: Ghez
authors.forename: Felipe
authors.initials: F
authors.lastname: Suarez
authors.forename: Richard
authors.initials: R
authors.lastname: Delarue
authors.forename: Philippe
authors.initials: P
authors.lastname: Casassus
authors.forename: Christine
authors.initials: C
authors.lastname: Bodemer
authors.forename: Adeline
authors.initials: A
authors.lastname: Catteau
authors.forename: Frédérique
authors.initials: F
authors.lastname: Soppelsa
authors.forename: Katia
authors.initials: K
authors.lastname: Hanssens
authors.forename: Michel
authors.initials: M
authors.lastname: Arock
authors.forename: Hagay
authors.initials: H
authors.lastname: Sobol
authors.forename: Sylvie
authors.initials: S
authors.lastname: Fraitag
authors.forename: Danièle
authors.initials: D
authors.lastname: Canioni
authors.forename: Alain
authors.initials: A
authors.lastname: Moussy
authors.forename: Jean Marie
authors.initials: JM
authors.lastname: Launay
authors.forename: Patrice
authors.initials: P
authors.lastname: Dubreuil
authors.forename: Olivier
authors.initials: O
authors.lastname: Hermine
authors.forename: Olivier
authors.initials: O
authors.lastname: Lortholary
mesh_terms: D000328:Adult; D017668:Age of Onset; D001706:Biopsy; D002648:Child; D018450:Disease Progression; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D008415:Mastocytosis / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology; D008875:Middle Aged; D009154:Mutation; D010641:Phenotype; D019009:Proto-Oncogene Proteins c-kit / Q000235:genetics*; D012867:Skin / Q000473:pathology
chemical_list: D019009:Proto-Oncogene Proteins c-kit