Molecular Diagnosis of Mast Cell Disorders

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Molecular Diagnosis of Mast Cell Disorders Cem Akin The Journal of Molecular Diagnostics Volume 8, Issue 4, Pages 412-419 (September 2006) DOI: 10.2353/jmoldx.2006.060022 Copyright © 2006 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 1 Multifocal clusters of mast cells in a bone marrow biopsy visualized by immunohistochemical staining for tryptase satisfy the World Health Organization major diagnostic criterion in this patient with indolent systemic mastocytosis. The Journal of Molecular Diagnostics 2006 8, 412-419DOI: (10.2353/jmoldx.2006.060022) Copyright © 2006 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 2 Mast cells in bone marrow aspirate smears show aberrant morphological features such as spindling and hypogranulation (A), as compared to normal mast cells with a round and centrally located nucleus and dense cytoplasmic granulation (B). The Journal of Molecular Diagnostics 2006 8, 412-419DOI: (10.2353/jmoldx.2006.060022) Copyright © 2006 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 3 C-kitmutations in mastocytosis. EC, extracellular (ligand binding); TM, transmembrane; JM, juxtamembrane; TK, tyrosine kinase domain. The most common mutation, D816V, is shown boxed. The Journal of Molecular Diagnostics 2006 8, 412-419DOI: (10.2353/jmoldx.2006.060022) Copyright © 2006 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 4 Demonstration of D816V c-kitmutation by RFLP (A) and capillary sequencing (B). A:HinfI digestion of the RT-PCR product from HMC1.2 cell line (lane 1, positive control) and patient samples in lanes 4 and 6 show the presence of an additional band (arrow) as a result of creating a new restriction site by A>T nucleotide change in c-kitcodon 816. Lanes 2, 3, and 5 show wild-type pattern codon 816. B: Demonstration of the heterozygous A>T nucleotide change in cDNA position 2468 (corresponding to amino acid change D816V) by direct capillary sequencing (right), and its comparison to the wild-type sequence (left). The Journal of Molecular Diagnostics 2006 8, 412-419DOI: (10.2353/jmoldx.2006.060022) Copyright © 2006 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions