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Document type:
Journal Article; Research Support, Non-U.S. Gov't
Author(s):
Hoermann, Gregor; Sotlar, Karl; Jawhar, Mohamad; Kristensen, Thomas; Bachelot, Guillaume; Nedoszytko, Boguslaw; Carter, Melody C; Horny, Hans-Peter; Bonadonna, Patrizia; Sperr, Wolfgang R; Hartmann, Karin; Brockow, Knut; Lyons, Jonathan J; Kluin-Nelemans, Hanneke C; Hermine, Olivier; Akin, Cem; Broesby-Olsen, Sigurd; Triggiani, Massimo; Butterfield, Joseph H; Schwaab, Juliana; Reiter, Andreas; Gotlib, Jason; Metcalfe, Dean D; George, Tracy I; Orfao, Alberto; Valent, Peter; Arock, Michel
Title:
Standards of Genetic Testing in the Diagnosis and Prognostication of Systemic Mastocytosis in 2022: Recommendations of the EU-US Cooperative Group.
Abstract:
Mastocytosis comprises rare heterogeneous diseases characterized by an increased accumulation of abnormal mast cells in various organs/tissues. The pathogenesis of mastocytosis is strongly linked to the presence of KIT-activating mutations. In systemic mastocytosis (SM), the most frequent mutation encountered is KIT p.D816V, whose presence constitutes one of the minor diagnostic criteria. Different techniques are used to search and quantify the KIT p.D816V mutant; however, allele-specific quant...     »
Journal title abbreviation:
J Allergy Clin Immunol Pract
Year:
2022
Journal volume:
10
Journal issue:
8
Pages contribution:
1953-1963
Fulltext / DOI:
doi:10.1016/j.jaip.2022.03.001
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/35283331
Print-ISSN:
2213-2198
TUM Institution:
Klinik und Poliklinik für Dermatologie und Allergologie
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