Cilj ovog preglednoga rada bio je istražiti dosadašnje spoznaje o patofiziološkim mehanizmima nastanka mastocitoma u različitih vrsta životinja i ljudi. Također je bila namjera na temelju literaturnih podataka usporediti biološko ponašanje i oblike mastocitoma u ljudi i različitih životinjskih vrsta i komparativnim pristupom istražiti najvažnija obilježja mastocitoma, njihovu pojavnost te mogućnost širenja. Patogeneza mastocitoma nije još u potpunosti razjašnjena. Pretpostavlja se da je više čimbenika uključeno u mehanizam nastanka; pasminska predispozicija upućuje na gensku komponentu uključenu u patogenezu mastocitoma, a važnu ulogu ima i mutacija gena koji kodira receptor s aktivnošću tirozin ‒ kinaze (KIT) na membrani mastocita za vezanje čimbenika matičnih stanica (SCF, engl. stem cell factor). Mutacija KIT gena uzrokuje stvaranje KIT receptora koji je kontinuirano aktivan u odsutnosti liganda, tj. SCF-a što dovodi do proliferacije mastocita i nastanka mastocitoma. Mutacije KIT gena u pasa su najčešće locirane na eksonu 11 koji kodira regulatornu jukstamembransku domenu KIT receptora, dok je u ljudi s mastocitozom najzastupljenija mutacija D816V na poziciji 2447 kodirajuće sekvence KIT gena. Mutacije KIT gena u pasa su povezane s progresijom i lošijom prognozom mastocitoma, dok u ljudi i u mačaka mutacije KIT gena nisu povezane s prognozom bolesti, premda u ljudi imaju bitnu ulogu u dijagnostici i terapiji.This review article investigates the current knowledge of the pathophysiological mechanisms for the formation of mast cell tumours in different animal species and humans. Based on the available literature data, the biological behaviour and forms of mast cell tumour occurring in animals and people were compared, and the essential features of these tumours, such as incidence and the possibility of spread, were examined. The pathogenesis of mast cell tumour formation is not yet fully elucidated though it is assumed to be multifactorial. Breed predisposition to mast cell tumour formation raises the suspicion that pathogenesis is based on a genetic component, where a mutation of the gene that codes the receptor for tyrosine kinase activity on the mast cell membrane for the binding of stem cell factor (SCF) plays an important role. Mutations in the KIT gene causes production of a KIT receptor that is constitutively activated in the absence of a ligand, i.e., stem cell factor (SCF), which leads to mast cell proliferation and development of the mast cell tumour. Mutations in the KIT gene in dogs are commonly located on exon 11, which codes the regulated juxtamembrane domain of the KIT receptor, while in humans with mastocytosis, mutations are commonly found on exon D816V at the 2447 position of coding sequence of the KIT gene. Mutations in the KIT gene in dogs are associated with progression and poor prognosis of the mast cell tumour. In contrast, such mutations are not associated with disease prognosis in cats or humans. However, they play an essential role in diagnosis and therapy in humans
