Blood & Immune
Also called SM, Mast Cell Disease, Systemic Mast Cell Disorder
Systemic Mastocytosis results from clonal proliferation of mast cells due to activating mutations, most commonly KIT D816V, leading to accumulation of abnormal mast cells in bone marrow, lymphoid tissues, skin, and other organs. Mast cells produce numerous mediators including histamine, tryptase, heparin, and various cytokines that cause symptoms upon release.
Systemic Mastocytosis can present at any age, from childhood to elderly, though adult onset is most common. It affects males and females roughly equally. The disease occurs across all racial and ethnic groups. The KIT D816V mutation, present in approximately 90% of adult cases, is typically somatically acquired and not inherited. Some pediatric cases with different KIT mutations or other genetic alterations have different clinical courses.
Clinical trials for Systemic Mastocytosis focus on KIT inhibitors (midostaurin is FDA-approved for ASM and MCL), with newer trials investigating additional kinase inhibitors and combination therapies. Research explores management of both disease burden and mediator symptoms. Trials investigating non-KIT mutations and alternative therapeutic targets are expanding treatment options. Patients should consult with a mast cell disease specialist regarding trial eligibility and participate in disease registries that track outcomes and emerging therapies.
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