Diagnosis and treatment of systemic mastocytosis — experts’ statement

Abstract

Systemic mastocytosis (SM) is a rare hematological malignancy characterized by an abnormal expansion and accumulation of pathological mast cells in bone marrow and other organs including skin, liver, spleen and lymph nodes. The clinical manifestation can be extremely heterogeneous, from limited skin changes to multi-organ involvement or mast cell tumors. The median survival of patients diagnosed with indolent form is comparable to healthy population, while prognosis for patients with advanced disease is poor, with an estimated survival ranging from several months to several years. In most patients (> 90%), a somatic mutation in codon 816 of the c-KIT gene encoding tyrosine kinase receptor is detected. Additional molecular abnormalities and even coexistence of other hematological cancers, e.g. acute leukemia, are also observed. Regardless of the form of disease or serum tryptase concentration, patients are exposed to symptoms resulting from the release of mast cell mediators — most often itching, paroxysmal redness and blisters, and general mediator-induced symptoms — such as nausea, vomiting, diarrhea, abdominal pain, hypotensive episodes, fatigue, headache, fever, shortness of breath, osteopenia, osteoporosis and severe anaphylactic reactions. This paper presents current outlook on the diagnostic and treatment process of SM, taking into account the interdisciplinary aspects of the disease.