SUMMARY
Systemic Mastocytosis (SM) is a rare, clinically heterogeneous haematological disorder. Over 90% of patients carry a mutation in the receptor tyrosine kinase KIT (i.e. KIT D816V) resulting in the clonal expansion of neoplastic mast cells (MCs) impacting multiple organs and leading to variable clinical presentations ranging from skin-limited disease to more aggressive variants associated with multi-organ dysfunction and reduced survival. Furthermore, the quality of life can be impaired by excess mediator release from neoplastic mast cells resulting in a significant symptom burden. Based on the above, there have been increasing efforts to develop novel, targeted therapies in order to improve quality of life while also affecting survival outcomes. This review will give an overview of the diagnostic work-up for SM patients as well as therapeutic management, including updates from recent clinical trials.
(BELG J HEMATOL 2024;15(6):216–24)
