Gastrointestinal Stromal Tumors with PDGFRA Exon 18 D842V Mutation

The PDGFRA gene is located on human chromosome 4 and belongs to the type III tyrosine kinase receptor family. The D842V mutation is a point mutation in exon 18 of the activation loop domain encoded by PDGFRA, which will lead to abnormal PDGFRA structure, abnormal transmission of its downstream signal pathway, and finally lead to GIST [1]. The D842V mutation is the most common mutation of the PDGFRA gene [2]. Compared to other mutation types, GIST with a PDGFRA D842V mutation demonstrate a unique pattern of occurrence, development, and required treatment, which needs more attention from clinicians.