Gastrointestinal Stromal Tumours (GIST) in Young Adult (18–40 Years) Patients: A Report from the Dutch GIST Registry

Abstract

Gastrointestinal stromal tumour (GIST) is a disease of older adults and is dominated by <i>KIT</i>/<i>PDGFR</i> mutations. In children, GIST is rare, predominantly occurs in girls, has a stomach location and generally lacks <i>KIT</i>/<i>PDGFR</i> mutations. For young adults (YA), aged 18 to 40 years, the typical phenotypic and genotypic patterns are unknown. We therefore aimed to describe the clinical, pathological and molecular characteristics of GIST in in YA. YA GIST patients registered in the Dutch GIST Registry (DGR) were included, and data were compared to those of older adults (OA). From 1010 patients in the DGR, 52 patients were YA (54% male). Main tumour locations were stomach (46%) and small intestine (46%). GIST genetic profiles were mutations in <i>KIT</i> (69%), <i>PDGFRA</i> (6%), SDH deficient (8%), NF1 associated (4%), <i>ETV6-NTRK3</i> gene fusion (2%) or wildtype (10%). Statistically significant differences were found between the OA and YA patients (localisation, syndromic and mutational status). YA presented more often than OA in an emergency setting (18% vs. 9%). The overall five-year survival rate was 85%. In conclusion, YA GISTs are not similar to typical adult GISTs and also differ from paediatric GISTs, as described in the literature. In this series, we found a relatively high percentage of small intestine GIST, emergency presentation, 25% non-<i>KIT/PDGFRA</i> mutations and a relatively good survival.