Systemic mastocytosis

Abstract

The study of systemic mastocytosis (SM) is undergoing dynamic change. Understanding of the biologic underpinnings of the disease, including its various World Health Organization-defined subtypes, is being catalysed by next generation sequencing in conjunction with sophisticated molecular biology tools which have allow refined analysis of mast cell immunophenotypes and intracellular signalling networks. In turn, this has provided translational opportunities for identifying new targets of therapy and biologic correlates of response, particularly in advanced forms of disease. Because SM is a rare and heterogeneous disease, collaborative efforts are being undertaken to aggregate data from large numbers of patients to better define the natural history and prognosis of its variants. This chapter aims to summarize the major features of mast cell biology, diagnosis, classification, and treatment, including a focus on more recent developments regarding the mutational landscape of SM and novel therapeutics.