Monitoring Sensitivity Mutations in The Blood of GIST Patients

Abstract

Gastrointestinal stromal tumor (GIST) is the most common mesenchymal neoplasm of the gastrointestinal tract. Between 60 and 95% of GISTs are defined and diagnosed by the expression of KIT, a tyrosine kinase receptor (TKR) encoded by KIT proto-oncogene. Treatment with Imatinib has increased the median survival of patients with advanced GISTs, and improved their prognosis, but most of the patients will develop treatment resistance. To modify the treatment course of patients, it is necessary to identify the resistance mutations at an early stage. However, classical biopsies are invasive, and it is difficult, if not hazardous, to obtain tumor specimens at different time points to monitor the disease course. More recently, it has been shown that by monitoring DNA released from tumors to the blood (ctDNA), using so-called “liquid biopsies”, it is possible to monitor cancer patients spatially and temporally, thus overcoming the limitations of standard diagnostic routines. In this project we aimed to detect rare tumor mutations in the blood of GIST patients