Systemic Mastocytosis, in the Context of a Deleterious Germline SDHC Variant, Treated with Ripretinib

Mastocytosis results from mast cell proliferation, which can be limited to the skin (cutaneous mastocytosis) or can involve infiltration of other tissues (systemic mastocytosis [SM]). SM is commonly associated with a gain-of-function mutation in KIT, which encodes the receptor tyrosine kinase KIT (CD117), leading to its constitutive activation. A subset of patients with SM may also develop a hematologic malignancy. Various therapies are available for SM, including interferon-alfa, cladribine, and tyrosine kinase inhibitors (TKIs).