I am KIT D816V. I am the genomic mutation that is the central driver of systemic mastocytosis (SM). See how I cause uncontrolled proliferation and activation of mast cells, resulting in an array of severe and unpredictable symptoms in your patients.1,7,13
Other less common somatic KIT mutations identified in adult systemic mastocytosis include V560G, D815K, D816Y, insVI815-816, D816F, D816H, and D820G.1 Patients with no KIT mutation detected have been described as well in rare cases.14
See how KIT D816V plays a central role in SM
Activated mast cells release powerful mediators, including:
Organopathy due to mast cell infiltration can also occur, causing lymphadenopathy, splenomegaly/hypersplenism, hepatomegaly/ascites, cytopenias, malabsorption, or protein-losing enteropathy with weight loss.21,22
Data collected from the registry of the European Competence Network on Mastocytosis (ECNM) was used to calculate rates of disease progression for patients with indolent systemic mastocytosis and smoldering systemic mastocytosis.11
With progression
Without progression
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