Gastrointestinal stromal tumours (GIST)

Abstract:

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