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Mastocytosis and related entities: a practical roadmap
Michiel Beyens1,2, Jessy Elst1,2, Marie-Line van der Poorten1,2,3,4
1Department of Immunology, Allergology, Rheumatology and the Infla-Med Centre of Excellence, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium.
Mastocytosis is a multisystem disorder involving mast cells (MCs), often linked to KIT gene mutations. This review offers a diagnostic and management roadmap for mastocytosis and related conditions like hereditary alpha tryptasemia (HaT).
Area of Science:
- Hematology and Immunology
- Genetics and Molecular Biology
- Clinical Medicine
Background:
- Mastocytosis is a rare, heterogeneous multisystem disorder characterized by the pathological accumulation of neoplastic mast cells (MCs) in various organs.
- The condition is frequently associated with gain-of-function mutations in the KIT gene, notably D816V, affecting MC growth factor receptor signaling.
- The World Health Organization classifies mastocytosis into subclasses based on clinical and biochemical criteria, with an estimated prevalence of 1 in 10,000 individuals.
Conclusions:
- Accurate diagnosis and management of mastocytosis require a comprehensive understanding of its diverse clinical and genetic landscape.
- Further research is needed to elucidate the precise role of HaT in mastocytosis pathogenesis and clinical outcomes.
- This review aims to standardize diagnostic approaches and therapeutic strategies for mastocytosis patients.
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