Description

Mastocytosis is a heterogeneous group of disorders, characterized by the accumulation of clonal mast cells which can infiltrate several organs, such as the skin, bone marrow or liver. The skeleton is the most frequent localization of systemic mastocytosis (SM). Bone involvement occurs in approximately 70% of SM patients. Pathogenesis of mastocytosis bone disease is poorly understood.

The aim of our research is to explain the potential role of sclerostin, a recently discovered bone tissue protein, in the pathogenesis of bone changes in patients with mastocytosis.

The study group consists of adult patients with mastocytosis divided according to their clinical variants of disease (aggressive systemic mastocytosis - ASM, systemic mastocytosis with an associated hematological neoplasms SM-AHN, smouldering systemic mastocytosis - SSM, indolent systemic mastocytosis - ISM and cutaneous mastocytosis - CM; and group of healthy volunteers.

The concentration of sclerostin, bioactive sclerostin and expression of the SOST gene in human plasma and HMC-1.2 human mast cell culture supernatants is assessed. The Real-Time PCR method is used to evaluate the expression of sclerostin at the mRNA level, while the concentration of the sclerostin protein and its bioactive form is assessed using the enzyme immunoassay ELISA method. The obtained results are correlated with selected demographic, clinical, laboratory and radiological findings. Low-dose CT scan is used to assess bone changes.

These preliminary results could serve that sclerostin may be a new therapeutic target in patients with mastocytosis.