MEDIX, God. 15 Br. 82  •  Pregledni članak  •  Gastroenterologija / Onkologija HR ENG

Gastrointestinalni stromalni tumori (GIST)Gastrointestinal stromal tumours (GIST)

Nadan Rustemović

Gastrointestinalni stromalni tumori (GIST) najčešći su mezehnimalni tumori probavnog trakta. Uglavnom su asimptomatski i slučajno se otkrivaju prilikom endoskopskih i radioloških pregleda. GIST potječe od intestinalnih Cajalovih stanica ili njihovih prekursora. Oko 80% GIST-a pokazuje KIT-gensku mutaciju, najčešće na lokaciji eksona 11, a rjeđe na eksonima 9, 13 ili 17 što rezultira nekontroliranim KIT-signalima. Manja grupa GIST-a kod koje nije registrirana KIT-genska mutacija ima PDGFRA-mutaciju. Ova su saznanja promovirala učinkovitu sistemsku terapiju po tipu inhibicije aktivnosti receptora tirozin-kinaze čiji je prototip imatinib mesliat. Tijekom posljednjih deset godina GIST je izrastao od nejasnih tumora do dobro definiranih neoplazmi koje su postale primjer bolesti kod kojih je moguće djelotvorno primijeniti molekulski ciljanu terapiju

Ključne riječi:
gastrointestinalni stromalni tumori; imatinib; protonkogen KIT; receptor za trombocitni čimbenik rasta alfa; receptor tirozin kinaze

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Gastrointestinal stromal tumours (GIST) are the most common mesenchymal tumours of the gastrointestinal tract. They are often asymptomatic and discovered accidentally during endoscopic or barium studies. GIST originate from the interstitial cells of Cajal or their precursors. About 80% of GISTs have a KIT gene mutation, which mostly affects exon 11 and less often is found in exons 9,13 or 17. The mutation results in uncontrolled KIT signalling. A small group of GISTs without KIT mutations have activating mutations in the related receptor tyrosine kinase, PDGFRA. These findings have led to the development of effective systemic therapy using small molecule receptor tyrosine kinase inhibitors, such as imatinib mesylat. During the previous decade, GISTs have ceased to be poorly understood tumours and have become welldescribed neoplasms. They are an example of disease that may be treated with an effective, targeted molecular therapy.

Key words:
gastrointestinal stromal tumors; imatinib; proto-oncogene proteins c-kit; receptor, platelet-derived growth factor alpha; receptor protein-tyrosine kinase