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
By continuing, you confirm that you are a U.S. healthcare professional.
You will enter a website that is not owned or controlled by Blueprint Medicines. Blueprint Medicines is not responsible for any information, statements, or other content you may encounter on third-party websites and makes no representation as to the accuracy of information contained on websites we do not own or control. Further, Blueprint Medicines does not recommend nor endorse the content of any third-party website. Your use of a third-party website is subject of the terms and conditions of use for such sites.