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

doi:10.1016/j.jaip.2022.03.001

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Article

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

The journal of allergy and clinical immunology. In practice - 1 Aug 2022

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 excerpt

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...

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PMID: 35283331
DOI: 10.1016/j.jaip.2022.03.001

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