Somatic D816V KIT mutation in a case of adult-onset familial mastocytosis

• Published in: Journal of allergy and clinical immunology Vol. 131; no. 2; pp. 605 - 607
• Main Authors: Zanotti, Roberta, MD, Simioni, Livio, MD, Garcia-Montero, Andres C., PhD, Perbellini, Omar, MD, Bonadonna, Patrizia, MD, Caruso, Beatrice, MD, Jara-Acevedo, Maria, MSc, Bonifacio, Massimiliano, MD, De Matteis, Giovanna, PhD
• Format: Journal Article
• Language: English
• Published: New York, NY Mosby, Inc 01.02.2013; Elsevier; Elsevier Limited
• Subjects: Adult; Allergy and Immunology; Animals; Biological and medical sciences; Bone marrow; Cell growth; Cellular biology; Deoxyribonucleic acid; DNA; Female; Fundamental and applied biological sciences. Psychology; Fundamental immunology; Histology; Humans; Hymenoptera - immunology; Immunopathology; Immunotherapy; Laboratories; Lymphocytes; Male; Mastocytosis, Systemic - genetics; Mastocytosis, Systemic - immunology; Medical sciences; Middle Aged; Mutation; Patients; Pediatrics; Proto-Oncogene Proteins c-kit - genetics; Proto-Oncogene Proteins c-kit - immunology; Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis; Signal transduction; Venom; Venoms - immunology; Italy; Human; Somatic mutation; Immunopathology; Mastocytosis; Immunology; Age of onset; Adult
• ISSN: 0091-6749; 1097-6825
• DOI: 10.1016/j.jaci.2012.11.040

The presence of the D816V mutation was also investigated on genomic DNA from total peripheral blood (PB) and from fluorescence-activated cell sorting-purified populations of PB neutrophils, monocytes, and lymphocytes, by allele-specific real-time quantitative PCR.6 Genomic DNA from total PB sample of the son showed a slight positivity (2.5%-5%) of the D816V KIT mutation, whereas the mother was negative, which would confirm that it was not a case of germline but somatic mutation. [...]analysis of genomic DNA from purified PB cell populations of the son revealed that only monocytes and granulocytes carried the D816V KIT mutation while T lymphocytes were negative for this mutation.