Mastocytosis, MCAS, and Related Disorders – Diagnosis, Classification and Therapy

Dear Colleagues,

Mast cells (MC) are multifunctional cells regulating innate and adaptative immune system. MC participate in detection of harmful pathogens like viruses, bacteria, parasites and toxins, play the role in wound healing, cancer and tumor progression. Inappropriate, recurrent  mast cell activation and secretion MC-derived mediators plays an essential role in many human diseases:  allergy, asthma, allergic rhinitis, urticaria, anaphylaxis, atopic dermatitis, mastocytosis (MCT) and mast cell activation syndrome (MCAS).

Mastocytosis is a heterogeneous group of myelodysplastic diseases with abnormal clonal MC proliferation, activation and accumulation of MC in the skin, bone marrow and/or other visceral organs. The diagnosis is based on the WHO criteria, in which the tryptase level, histopathological and immunophenotypic (CD2/CD25) assessment of MCs and detection of D816V somatic mutation of KIT gene are crucial. The disease is divided into 7 variants: cutaneous mastocytosis, indolent systemic mastocytosis (ISM), SM with an associated clonal haematological non‐MC‐lineage disease (SM‐AHNMD), aggressive SM (ASM), MC leukaemia (MCL), MC sarcoma (MCS), and extracutaneous mastocytoma.

MCAS can be diagnosed based three main criteria: a) typical symptoms symptoms caused by increased degranulation of MCs, b) serum tryptase elevation and c) response to anti-mediator treatment. The disease  is classified as primary, secondary, and idiopathic. In the primary MCAS,  monoclonal abnormal MC proliferation, with KIT D816V mutation and /or  CD25⁺   MC in bone marrow biopsy are observed. Secondary MCAS is caused by allergy or another underlying disease, with MC negative for D816V KIT and CD2/CD25.

Symptoms of MCAS and SM can be managed by blockade of mediator receptors (H1 and H2 antihistamines), leukotriene receptor blockage, inhibition of mediator synthesis or release, anti-IgE therapy, or a combination of these medications. Acute episodes of MC activation require epinephrine. Patients with SM or primary MCAS may need a cytoreductive therapy to prevent severe symptoms including anaphylaxis.

In this special Issue, we will publish research papers, up-to-date review articles, and commentaries are all welcome.

Dr. Bogusław Nedoszytko
Prof. Dr. Peter Valent
Prof. Dr. Marek Niedoszytko
Guest Editors

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