Department of Dermatology, Chiba University Graduate School of Medicine, Chiba, Japan.
J Invest Dermatol. 2010 Mar;130(3):648-50. doi: 10.1038/jid.2009.291.
Adult mastocytosis is usually persistent and caused by c-KIT codon 816-activating mutations. Pediatric mastocytosis is often transient, and the molecular mechanism driving mast cell proliferation in pediatric cases remains unclear. In this issue, Bodemer et al. report novel c-KIT mutations in a large percentage of pediatric cases, identifying both similarities and fundamental differences in the mechanisms causing adult and pediatric mastocytosis.
成人肥大细胞增多症通常是持续性的,由 c-KIT 密码子 816 激活突变引起。儿童肥大细胞增多症通常是短暂性的,驱动儿科病例中肥大细胞增殖的分子机制仍不清楚。在本期杂志中,Bodemer 等人报道了很大比例的儿科病例中存在新的 c-KIT 突变,确定了导致成人和儿童肥大细胞增多症的机制既有相似之处,也有根本差异。