Systemic mastocytosis (SM) is defined as the accumulation of abnormal mast cells (MC) in 1 or more extracutaneous tissues. Symptoms are due to either MC activation or organ infiltration and vary depending on disease subtype. More benign forms of SM, such as indolent SM, result in a life expectancy similar to the general population, while more aggressive subtypes, such as MC leukemia (MCL), have a median survival measured on the order of months. Treatment of indolent SM is directed at controlling the symptoms associated with MC activation. In advanced forms, such as aggressive SM and MCL, agents targeting MC proliferation such as KIT tyrosine kinase inhibitors, cladribine, and thalidomide may be provided. Newer agents based on preclinical rationale are also being actively investigated. However, the only potentially curative therapy for aggressive SM/MCL remains hematopoietic stem cell transplantation. Given that SM is a relatively rare disease, clinicians are often underprepared to evaluate, diagnose, and effectively treat this clinically heterogeneous condition. Here we seek to familiarize clinicians with this orphan disease and review current and future treatment approaches.
Keywords: Hematopoietic stem cell transplantation; KIT; Mast cells; Myeloproliferative neoplasm; Tyrosine kinase inhibitor.
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