Gastrointestinal stromal tumours – an update for histopathologists

This review aims to summarize recent knowledge gained about gastrointestinal stromal tumour (GIST) of particular relevance to histopathologists. KIT and PDGFRA mutation analyses can be useful for confirming a diagnosis of GIST, but there are some diagnostic limitations to these analyses, and so immunohistochemical markers currently remain crucial to the diagnostic process. Of these markers, CD117 and Discovered on GIST 1 (DOG1) are currently the most sensitive and specific markers of GIST, and recent data appear to disprove the fear that antigen retrieval causes false-positive CD117 immunostaining. The accurate prognostication of GIST has been greatly helped by the National Institutes of Health (NIH) and Armed Forces Institute of Pathology (AFIP) classification systems, although both systems still have limitations, and the behaviours of certain GIST subgroups are less well predicted by both systems. KIT and PDGFRA mutation analyses can help to predict the response of GISTs to receptor tyrosine kinase inhibitors, and both GISTs that respond and those that show resistance to these inhibitors may show characteristic pathological changes. Some GIST subgroups (e.g. Carney syndrome and paediatric GISTs) have had recently described clinicopathological and/or molecular characteristics which may help with the diagnosis and/or treatment of these specific neoplasms.