期刊
JOURNAL OF INVESTIGATIVE DERMATOLOGY
卷 130, 期 3, 页码 804-815出版社
ELSEVIER SCIENCE INC
DOI: 10.1038/jid.2009.281
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资金
- INSERM (Institut National de la Sante et de la Recherche Medicale)
- la Ligue Nationale Contre le Cancer equipe labellisee
- Ministry of Research
- GIS-Institut des Maladies Rares, France
- Agence Nationale pour la Recherche-Maladies Rares of France
- AFIRMM (Association Francaise pour les Initiatives de Recherche sur le Mastocyte et les Mastocytoses)
Adult mastocytosis is an incurable clonal disease associated with c-KIT mutations, mostly in exon 17 ((DV)-V-816). 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 codon 816 (exon 17) was found in 42% of cases, and mutations outside exon 17 were observed in 44%. Unexpectedly, half of the mutations were located in the fifth Ig loop of c-KIT's extracellular domain, which is encoded by exons 8 and 9. All mutations identified in this study were somatic and caused a constitutive activation of c-KIT. There was no clear phenotype-genotype correlation, no clear relationship between the mutations and familial versus spontaneous disease, and no significant change in the relative expression of the c-KIT GNNK+ and GNNK isoforms. These findings strongly support the idea that, although pediatric mastocytosis can spontaneously regress, it is a clonal disease most commonly associated with activating mutations in c-KIT
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