Approximately 15% of gastrointestinal stromal tumors (GIST) do not express KIT mutations and of these about 5 to 7% harbor mutations in PDGFRA. DOG1 was specifically expressed in GISTs. These cases require special attention for PDGFRA and DOG1 mutational status. Hundred cases of GIST were diagnosed between August 2007 and October 2012 at the First Affiliated Hospital of Guangxi Medical University. DNA from tumor tissues and normal adjacent tissues was isolated and amplified for the 22 exons of PDGFRA and 26 exons of DOG1. Each PCR product was sequenced. Amino acid sequences were inferred from DNA and aligned to GenBank reference sequences to determine the position and type of mutations. Overall, 16.0% of the samples had a mutation in PDGFRA, and GISTs with mutations in the DOG1 gene were not found. Of the mutations detected, they were in PDGFRA exon 18 (8 cases, 8%), PDGFRA exon 12 (5 cases, 5%), PDGFRA exon 14 (1 cases, 1.0%), PDGFRA exon 11 (1 cases, 1.0%), and PDGFRA exon 8 (1 cases, 1.0%). Of these, Y392S, L521P and T632K mutant occurred in PDGFRA exon 8, exon 11 and exon 14, respectively. The mutation of PDGFRA has been considered as another causative genetic event as PDGFRA mutations were found in most GISTs lacking a KIT mutation. PDGFRA mutations occurred preferentially in exon 18 and exon 12. Mutations occurring in PDGFRA exon 8 (Y392S), exon 11 (L521P) and exon 14 (T632K) also were first identified. The over-expression of DOG1 was not related to DOG1 gene mutation.
Keywords: DOG1; Gastrointestinal stromal tumor; mutation; platelet-derived growth factor alpha.