Mastocytosis, MCAS, and Related Disorders: From Mechanisms to Therapeutic Approaches

Dear Colleagues,

Various combinations of local and systemic mast cell (MC) activation, leading to different degrees of tissue-specific consequences, are responsible for the pleomorphic clinical symptoms of mast cells disorders that may virtually involve all organ systems. Recurrent, severe clinical manifestations of MC activation are referred to as mast cell activation syndrome (MCAS); although clinical symptoms are largely overlapping among different MC disorders, the underlying pathogenetic mechanisms may be extremely diverse. Anaphylaxis is the most recognizable manifestation of MCAS, but they cannot be considered fully overlapping as for defined diagnostic criteria. Primary MCAS refers to the clonal infiltration of different tissues (mainly the skin, bone marrow, gastro-intestinal tract, and bones) from the MCs that may harbor cKIT mutations, and is consistent with a diagnosis of mastocytosis. Secondary MCAS refers to MC activation elicited by known triggers through both IgE- and non IgE-mediated mechanisms. Idiopathic MCAS refers to recurrent MC activation with unknown predisposing factors. Hereditary alpha tryptasemia is a genetic condition characterized by extra copies of the TPSAB1 gene, encoding for alpha-tryptase, that is predisposing to anaphylaxis and MCAS and frequently linked to mastocytosis.

The therapeutic approaches of MC disorders are completely different, based on the driving pathogenetic mechanisms. Anti-mediator drugs are used to control the clinical manifestations of anaphylaxis and both secondary and idiopathic MCAS, together with avoiding exposition to known triggers. On the other hand, mastocytosis may require targeted therapies with tyrosine kinase inhibitors, and potentially allogeneic transplant in cases of rare aggressive disease.

In this Special Issue, original research articles and reviews about mastocytosis, MCAS, and related disorders are welcome.

Dr. Marianna Criscuolo
Guest Editor

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• mast cell
• alpha tryptasemia
• hymenoptera venom
• mastocytosis
• anti-mediator therapy
• tyrosine kinase inhibitors
• allogeneic transplant