Hirokatsu Yanagihori, Noritaka Oyama, Koichiro Nakamura, Fumio Kaneko

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c-kit Mutations in Patients with Childhood-Onset Mastocytosis and Genotype-Phenotype Correlation Hirokatsu Yanagihori, Noritaka Oyama, Koichiro Nakamura, Fumio Kaneko The Journal of Molecular Diagnostics Volume 7, Issue 2, Pages 252-257 (May 2005) DOI: 10.1016/S1525-1578(10)60552-1 Copyright © 2005 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 1 Schematic representation of Kit protein and location of c-kit gene mutations described previously. The distinct molecular domains comprise three functional structures: NH2-terminal extracellular, transmembrane and COOH-terminal intracellular domains. The extracellular domain contains five immunoglobulin-like repeats and the intracellular domain encodes two tandem repeats of the enzyme catalytic domains. The mutations at codon 560 within the juxtamembrane region and codon 816/820 within the second catalytic domain cause ligand-independent autophosphorylation of Kit receptor protein, whereas the mutation at codon 839 results in loss of receptor function.8 The c-kit mutations reported thus far are shown. The Journal of Molecular Diagnostics 2005 7, 252-257DOI: (10.1016/S1525-1578(10)60552-1) Copyright © 2005 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 2 Clinical and histological findings. Our mastocytosis cohort includes three different clinical subgroups: urticaria pigmentosa (case 12, left column), diffuse cutaneous mastocytosis (case 8, middle column), and solitary mastocytoma (case 9, right column). Histology shows marked and dense dermal infiltration of mast cells, although urticaria pigmentosa skin exhibits patchy infiltration in the upper dermis (H&E and toluidine blue staining). Representative clinicopathological features are shown. The Journal of Molecular Diagnostics 2005 7, 252-257DOI: (10.1016/S1525-1578(10)60552-1) Copyright © 2005 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 3 Identification of the c-kit gene mutation within exon 17. By using genomic DNA from lesional skin, the exon 17 fragment was amplified and sequenced using both sense and anti-sense primers. Representative results from cases 8 and 9 are shown. Sequences of the mutated allele revealed either a substitution from aspartate to valine, Asp816Val (c and d), or from aspartate to phenylalanine, Asp816Phe (e and f), but the normal allele did not (a and b). Arrows indicate the nucleotide substitutions. The Journal of Molecular Diagnostics 2005 7, 252-257DOI: (10.1016/S1525-1578(10)60552-1) Copyright © 2005 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions