Comprehensive mutational profiling in advanced systemic mastocytosis

Author:

Schwaab Juliana1,Schnittger Susanne2,Sotlar Karl3,Walz Christoph3,Fabarius Alice1,Pfirrmann Markus4,Kohlmann Alexander2,Grossmann Vera2,Meggendorfer Manja2,Horny Hans-Peter3,Valent Peter5,Jawhar Mohamad1,Teichmann Martina1,Metzgeroth Georgia1,Erben Philipp1,Ernst Thomas6,Hochhaus Andreas6,Haferlach Torsten2,Hofmann Wolf-Karsten1,Cross Nicholas C. P.78,Reiter Andreas1

Affiliation:

1. III. Medizinische Klinik, Hämatologie und Onkologie, Universitätsmedizin Mannheim, Mannheim, Germany;

2. Munich Leukemia Laboratory, Munich, Germany;

3. Pathologisches Institut Munich, and

4. Institut für Medizinische Informationsverarbeitung, Biometrie und Epidemiologie, Ludwig-Maximilians-Universität München, Munich, Germany;

5. Department of Internal Medicine I, Division of Hematology and Hemostaseology and Ludwig Boltzmann Cluster Oncology, Medical University of Vienna, Vienna, Austria;

6. Abteilung Hämatologie/Onkologie, Klinik für Innere Medizin II, Universitätsklinikum Jena, Jena, Germany;

7. Wessex Regional Genetics Laboratory, Salisbury, United Kingdom; and

8. Faculty of Medicine, University of Southampton, Southampton, United Kingdom

Abstract

Key Points Additional genetic aberrations apart from KIT D816V are found in advanced systemic mastocytosis. Additional genetic aberrations apart from KIT D816V are associated with a significant reduction of overall survival.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

Reference41 articles.

1. Diagnostic criteria and classification of mastocytosis: a consensus proposal.;Valent;Leuk Res,2001

2. Systemic mastocytosis in adults: 2012 Update on diagnosis, risk stratification, and management.;Pardanani;Am J Hematol,2012

3. Standards and standardization in mastocytosis: consensus statements on diagnostics, treatment recommendations and response criteria.;Valent;Eur J Clin Invest,2007

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