Abstract
Mastocytosis is a rare disease due to the abnormal accumulation of mast cells in various tissues. Its clinical presentation is heterogeneous depending on mast cell infiltration and mediators release. In some cases, it is associated with hematological malignancies. Prognosis varies from very good with a life expectancy similar to the general population in indolent forms of the disease to a survival time of just a few months in mast cell leukemia. Although in most cases a somatic KIT D816V mutation is found in tumor mast cells, the physiopathology of the disease is not yet fully understood. Additional germline and somatic mutations may explain this heterogeneity. Treatments aim at blocking effect of mast cell mediators, reducing mast cell activation and tumor burden. New drugs mainly directed against the tyrosine kinase activity of KIT have dramatically changed the quality of life and prognosis of mast cell diseases. Present and future therapeutic strategies are discussed in this review.
Highlights
Mastocytosis covers a spectrum of disease characterized by the clonal expansion and accumulation of mast cells (MCs) in the skin and in various internal organs, including the bone marrow (BM), spleen, lymph nodes, and gastrointestinal tract[1,2]
In 2016, the World Health Organization (WHO) classified types of mastocytosis into three main groups: cutaneous mastocytosis (CM), with involvement limited to the skin, systemic mastocytosis (SM), with the additional infiltration of tissues other than the skin, and MC sarcoma[3]
KIT mutations do not account for all mastocytosis phenotypes More than 85% of patients with adult-onset mastocytosis present a somatic gain-of-function mutation in the KIT gene coding for the KIT transmembrane tyrosine kinase receptor[18]
Summary
Mastocytosis covers a spectrum of disease characterized by the clonal expansion and accumulation of mast cells (MCs) in the skin and in various internal organs, including the bone marrow (BM), spleen, lymph nodes, and gastrointestinal tract[1,2]. Many questions have yet to be answered, including the cause and physiopathology of spontaneous regression in pediatric forms, the mechanisms by which KIT mutations and other somatic mutations cooperate, the respective roles of the genetic background and environmental factors in disease development, and the heterogeneity of the disease’s signs and symptoms Answers to these questions would provide new treatment options for mastocytosis and help to Figure 5. Abbreviations AdvSM, advanced systemic mastocytosis; ASCT, allogeneic stem cell transplantation; ASM, aggressive systemic mastocytosis; BM, bone marrow; CEREMAST, French Reference Center for Mastocytosis; CM, cutaneous mastocytosis; ISM, indolent systemic mastocytosis; MC, mast cell; MCAS, mast cell activation syndrome; MCL, mast cell leukemia; MPCM, maculopapular cutaneous mastocytosis; pegIFN, pegylated interferon; SM, systemic mastocytosis; SM-AHN, systemic mastocytosis with an associated hematologic neoplasm; SSM, smoldering systemic mastocytosis; WHO, World Health Organization
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