Systemic mastocytosis


Authors: L. Nováková 1;  P. Kučera 2
Authors‘ workplace: Ústav hematologie a krevní transfuze, Praha, 2Oddělení alergologie a klinické imunologie Fakultní nemocnice Královské Vinohrady a 3. lékařská fakulta Univerzity Karlovy, Praha 1
Published in: Transfuze Hematol. dnes,15, 2009, No. 1, p. 31-38.
Category: Comprehensive Reports, Original Papers, Case Reports

Overview

Systemic mastocytosis (SM) is a rare and acquired myeloproliferative disorder characterized by a clonal proliferation of neoplastic mast cells and their accumulation in tissues. In most SM patients, the activating somatic mutation D816V (aspartate/valin substitution) of the c-KIT is detectable. In contrast to purely cutaneous form is systemic mastocytosis a disease of adulthood. A part of patients with SM presents with an associated non-mast cell clonal haematological disease, notably of myeloid line. The very rare variant of SM is mast cell leukemia. The symptoms of the disease are partly related to the organ infiltration, partly are caused by the release of mediators from neoplastic mast cells. The most important diagnostic tools are histology with immunohistochemistry of the infiltrated organ (particularly bone marrow), molecular analyses and the assesment of serum tryptase level. The natural clinical course of systemic mastocytosis is variable. Most patients, in particular those with indolent form, remain in an indolent stage over many years or decades, while others (in particular those with aggressive SM) show a progressive course, usually with a fatal outcome. Nowadays, using the classic cytoreductive treatment, there is no curative option available. However, concomitantly with the detection of some mutations of genes involved in the pathogenesis, the use of targeted drugs (tyrosine kinase inhibitors) is proposed with the possibility of reaching good responses. In patients with mediator-related symptoms, “mediator-targeting” drugs must be prescribed.

Key words:
systemic mastocytosis, classification, c-kit, tryptase


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Haematology Internal medicine Clinical oncology
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