KIT mutation analysis in mast cell neoplasms: recommendations of the European Competence Network on Mastocytosis

Arock, M. and Sotlar, K. and Akin, C. and Broesby-Olsen, S. and Hoermann, G. and Escribano, L. and Kristensen, T. K. and Kluin-Nelemans, H. C. and Hermine, O. and Dubreuil, P. and Sperr, W. R. and Hartmann, K. and Gotlib, J. and Cross, N. C. P. and Haferlach, T. and Garcia-Montero, A. and Orfao, A. and Schwaab, J. and Triggiani, M. and Horny, H.-P. and Metcalfe, D. D. and Reiter, A. and Valent, P.. (2015) KIT mutation analysis in mast cell neoplasms: recommendations of the European Competence Network on Mastocytosis. Leukemia, 29 (6). pp. 1223-1232.

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Official URL: https://edoc.unibas.ch/70763/

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Although acquired mutations in KIT are commonly detected in various categories of mastocytosis, the methodologies applied to detect and quantify the mutant type and allele burden in various cells and tissues are poorly defined. We here propose a consensus on methodologies used to detect KIT mutations in patients with mastocytosis at diagnosis and during follow-up with sufficient precision and sensitivity in daily practice. In addition, we provide recommendations for sampling and storage of diagnostic material as well as a robust diagnostic algorithm. Using highly sensitive assays, KIT D816V can be detected in peripheral blood leukocytes from most patients with systemic mastocytosis (SM) that is a major step forward in screening and SM diagnosis. In addition, the KIT D816V allele burden can be followed quantitatively during the natural course or during therapy. Our recommendations should greatly facilitate diagnostic and follow-up investigations in SM in daily practice as well as in clinical trials. In addition, the new tools and algorithms proposed should lead to a more effective screen, early diagnosis of SM and help to avoid unnecessary referrals.
Faculties and Departments:03 Faculty of Medicine > Departement Biomedizin > Department of Biomedicine, University Hospital Basel > Allergy and Immunity (Hartmann)
UniBasel Contributors:Hartmann, Karin
Item Type:Article, refereed
Article Subtype:Research Article
Note:Publication type according to Uni Basel Research Database: Journal article
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Last Modified:23 May 2020 14:23
Deposited On:23 May 2020 14:23

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