МАСТОЦИТОЗА-ДЕФИНИЦИЯ, СИМПТОМИ, ДИАГНОЗА И ЛЕЧЕНИЕ
MASTOCYTOSIS – DEFINITION, SYMPTOMS, DIAGNOSIS AND TREATMENT

Summary/Abstract: Mastocytosis is a rare clonal disease characterized by the abnormal accumulation and proliferation of mast cells in the skin, bone marrow, and internal organs (liver, spleen, gastrointestinal tract, and lymph nodes). In the etiology and pathogenesis of mastocytosis, KIT mutation plays a key role. Somatic KIT mutation is found in most patients and may be responsible for the autonomous growth and proliferation of the neoplastic mast cells. Symptoms are related to the release of histamine and prostaglandin and include anaphylaxis, flushing, itching, bronchospasm, and abdominal pain. Mastocytosis can develop in early childhood and occurs with high frequency in adults. According to the World Health Organization and international consensus, mastocytosis is categorized into three main forms: cutaneous mastocytosis, systemic mastocytosis, and mast cell sarcoma. Cutaneous mastocytosis is the most common form, especially in children. It primarily affects the skin, where mast cells cause maculopapular rash (urticaria pigmentosa) that may itch or form vesicles. Systemic mastocytosis is more common in adults, and this form involves the accumulation of mast cells in internal organs, such as the bone marrow, liver, spleen, and gastrointestinal tract. It is further divided into subtypes, ranging from indolent to aggressive forms. Mast cell sarcoma is an extremely rare form of malignant tumor composed of abnormal mast cells. The main methods used for diagnosis are skin biopsy, bone marrow biopsy, and testing for KIT D816V mutations. Depending on the variant and severity of symptoms, there are different therapeutic options. Treatment of mastocytosis focuses on symptom management, prevention of histamine release, and reduction of mast cell recruitment. The main therapeutic options include antihistamines (H1 and H2 blockers), steroids, monoclonal antibodies, and targeted therapy with tyrosine kinase inhibitors (midostaurin, avapritinib) in advanced cases. Mastocytosis is a clonal malignant neoplasms characterized by a complex biology, variable clinical course and unclear prognostic significance. This review summarises the current knowledge on the genetics, etiology, and pathology of mastocytosis, as well as updated diagnostic criteria and new concepts for the treatment of mastocytosis

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