Pediatric mastocytosis is a clonal disease associated with D816V and other activating c-KIT mutations.

  title={Pediatric mastocytosis is a clonal disease associated with D816V and other activating c-KIT mutations.},
  author={Christine Bodemer and Olivier Hermine and Fabienne Palm{\'e}rini and Ying Yang and Catherine Grandpeix-Guyodo and Phillip S. Leventhal and Smail Hadj-Rabia and L. B. Zamora Nasca and Sophie Georgin-Lavialle and Annick Cohen-Akenine and J. -F. Launay and St{\'e}phane Barete and Fr{\'e}d{\'e}ric F{\'e}ger and Michel Arock and Beno{\^i}t Catteau and B{\'e}atrix Sans and Jean François Stalder and François Skowron and Luc Thomas and G{\'e}rard Lorette and Patrice Plantin and Pierre Bordigoni and Olivier Lortholary and Yves de Prost and Alain Moussy and Hagay Sobol and Patrice Dubreuil},
  journal={The Journal of investigative dermatology},
  volume={130 3},
Adult mastocytosis is an incurable clonal disease associated with c-KIT mutations, mostly in exon 17 (D816V). In contrast, pediatric mastocytosis often spontaneously regresses and is considered a reactive disease. Previous studies on childhood mastocytosis assessed only a few patients and focused primarily on codon 816 mutations, with various results. In this study, we analyzed the entire c-KIT sequence from cutaneous biopsies of 50 children with mastocytosis (ages 0-16 years). A mutation of… CONTINUE READING
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