Old and new immunohistochemical markers for the diagnosis of gastrointestinal stromal tumors

Gastrointestinal stromal tumors (GISTs) are generally CD117-positive and KIT or PDGFRA mutation-driven mesenchymal tumors of the gastrointestinal tract, probably originating in interstitial cells of Cajal or related precursors. CD117 is the best diagnostic marker for GISTs, but 5-10% are negative. Staining pattern may be cytoplasmic, membrane, and paranuclear (Golgi pattern). PDGFRA expression can be located in the cytoplasm, membrane, and paranuclear region (Golgi pattern), but the lack of specificity, ubiquity of the staining, and technical problems have pushed it a second plane. In GISTs, the staining pattern of PKCO is cytoplasmic, diffuse, and granular, although a Golgi pattern may be seen. Global expression varies. The staining pattern of DOG1 varies from cytoplasmic to membranous, with usually strong, diffuse intensity. The positivity rate is almost identical in some series to CD117 positivity. Currently, it is considered the most specific and sensitive marker for GIST. The current panel for GIST includes CD117, smooth muscle actin, CD34, desmin, and S-100. Some authors also include PDGFRA, PKC0, and DOG1. The last two can be of value in a subset of GISTs, mainly in CD117-negative cases.