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Titel:

Standards of Genetic Testing in the Diagnosis and Prognostication of Systemic Mastocytosis in 2022: Recommendations of the EU-US Cooperative Group.

Dokumenttyp:
Journal Article; Research Support, Non-U.S. Gov't
Autor(en):
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
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...     »
Zeitschriftentitel:
J Allergy Clin Immunol Pract
Jahr:
2022
Band / Volume:
10
Heft / Issue:
8
Seitenangaben Beitrag:
1953-1963
Volltext / DOI:
doi:10.1016/j.jaip.2022.03.001
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/35283331
Print-ISSN:
2213-2198
TUM Einrichtung:
Klinik und Poliklinik für Dermatologie und Allergologie
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