Blood & Immune
Also called mast cell disease, systemic mastocytosis
Mastocytosis is a clonal myeloproliferative disorder characterized by accumulation and proliferation of abnormal mast cells in bone marrow, skin, and other organs. Most cases involve KIT proto-oncogene mutations (D816V) that drive mast cell expansion.
About trials for Mastocytosis
Clinical trials are evaluating tyrosine kinase inhibitors (KIT inhibitors) and other targeted therapies that inhibit mast cell proliferation and mediator release. Multiple agents are in development for different mastocytosis forms.
Try Match Me →Can present at any age; pediatric-onset cutaneous mastocytosis is most common, while systemic disease more common in adults. Affects males and females approximately equally. Sporadic disease is most common.
Clinical trials are evaluating tyrosine kinase inhibitors (KIT inhibitors) and other targeted therapies that inhibit mast cell proliferation and mediator release. Multiple agents are in development for different mastocytosis forms. The Mastocytosis Society and patient organizations provide information on trials and disease management. If you have systemic mastocytosis with KIT D816V mutation, discuss with your hematologist about tyrosine kinase inhibitor therapy, which can be highly effective. Strict avoidance of known triggers (foods, medications, temperature extremes) is important. Prophylactic medications (antihistamines, mast cell stabilizers) help prevent symptoms and anaphylaxis.
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