What is gastrointestinal mesenchymal stromal tumor (GIST)?

  GIST is the most common mesenchymal tumor of the gastrointestinal tract. It has the phenotypic features of Cajal mesenchymal cells in differentiation, is usually DOG-1 and CD117 positive on immunohistochemistry, and consists of spindle cells, epithelioid cells, and pleomorphic cells (occasionally) arranged in bundles or diffusely distributed on histology. Most are driven by mutated c-kit or PDGFRA (platelet-derived growth factor receptor) genes. c-kit and PDGFRA both belong to a family of type III receptor-coupled tyrosine kinases.  In 1998, a major breakthrough in the molecular pathology of GIST suggested that the majority (75%-85%) of GISTs were associated with functionally acquired mutations in the c-kit gene and that expression of the c-kit gene protein product CD117 was a characteristic molecular pathology of GIST. in 2003, Heinrish et al. in GISTs without c-kit gene mutations, an additional mutations in the PDGFRA gene. In recent years, BRAF gene mutations have been found in a minority of cases (about 4%-13%) without c-kit and PDGFRA gene mutations.  GIST covers the majority of gastrointestinal mesenchymal tumors that were previously diagnosed as smooth muscle-derived (smooth muscle tumor, smooth muscle sarcoma, smooth muscleoblastoma) or neurogenic (gastrointestinal autonomic neoplasm) and exhibit a continuous spectrum from benign to apparently malignant in terms of biological behavior.