Exome sequencing of a wild type gastrointestinal stromal tumor case. Homo sapiens

Whole exome sequencing of normal and tumor tissue DNA from a sporadic GIST (gastrointestinal stromal tumor) case was carried out. The case was a "wild type GIST", lacking mutations in the KIT and PDGFRA tyrosine kinases. The study was carried out to determine the molecular pathogenic mechanisms(s) in the case. Significant findings include somatic loss-of-function mutations in the neurofibromin 1 (NF1) gene and in the MYC associated factor X (MAX gene). This is the first report of NF1 mutations in GIST outside the context of the NF1 syndrome, and the first reported connection between MAX mutation and GIST oncogenesis.