title: Systemic Mastocytosis: Clinical Update and Future Directions.
abstract: 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.
authors.affiliation: Department of Hematology and Medical Oncology, Tisch Cancer Institute, Icahn School of Medicine at Mount Sinai, New York, NY.
authors.forename: Douglas
authors.initials: D
authors.lastname: Tremblay
authors.affiliation: Department of Hematology and Medical Oncology, Tisch Cancer Institute, Icahn School of Medicine at Mount Sinai, New York, NY.
authors.forename: Nicole
authors.initials: N
authors.lastname: Carreau
authors.affiliation: Department of Hematology and Medical Oncology, Tisch Cancer Institute, Icahn School of Medicine at Mount Sinai, New York, NY.
authors.forename: Marina
authors.initials: M
authors.lastname: Kremyanskaya
authors.affiliation: Department of Hematology and Medical Oncology, Tisch Cancer Institute, Icahn School of Medicine at Mount Sinai, New York, NY. Electronic address: john.mascarenhas@mssm.edu.
authors.forename: John
authors.initials: J
authors.lastname: Mascarenhas
mesh_terms: D000818:Animals; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D008407:Mast Cells; D034721:Mastocytosis, Systemic / Q000175:diagnosis / Q000401:mortality / Q000628:therapy*; D011379:Prognosis; D047428:Protein Kinase Inhibitors / Q000627:therapeutic use
chemical_list: D047428:Protein Kinase Inhibitors
keywords: Hematopoietic stem cell transplantation; KIT; Mast cells; Myeloproliferative neoplasm; Tyrosine kinase inhibitor