Mutational spectrum and therapy response of metastasized GIST in Central Switzerland – A population-based study

摘要: Abstract Background Until now, no population-based studies investigated the mutational status of primary GIST (PT) and corresponding metastases correlated these data with response to Imatinib or Sunitinib therapy. Patients methods In a retrospective observation study, all metastatic GISTs last 15years our institution were for mutations in c-kit PDGFRα gene each PT metastasis. Correlation clinical outcome therapy was performed. Results 13 exon 9 (3), 11 (7) (1), 2 wild type genotypes, mutation detected. three switch from heterozygosity homozygosity one additional observed. All 10 persons available follow-up received as first-line chemotherapy. Five them (3 mutations, 1 type, mutation) stopped due tumour progression. cases, second-line chemotherapy ended same reasons. Conclusions Our support previous observations, that play important role metastasized GISTs. The influence genotype needs further investigation.