MULTIFOCAL GASTRIC EPITHELIOID GASTRO-INTESTINAL STROMAL TUMOUR IN A 12 YEAR OLD GIRL - A CASE REPORT

Most gastrointestinal stromal tumours (GISTs) are driven by KIT or PDGFRA (Platelet Derived Growth Factor Activator) activating mutations, but a small subset is associated with loss of function of the succinate dehydrogenase (SDH) complex of mitochondrial inner membrane proteins. This occurs via germline mutations of the SDH subunit genes and certain other unknown mechanisms. SDH-deficient GISTs especially include pediatric GISTs and those associated with Carney triad (CT) or Carney-Stratakis syndromes (CSS) the latter two also include paraganglioma as a component(1). These tumours show specific clinicopathological features such as female preponderance, onset in childhood, gastric location, multifocality and epithelioid morphology. We present a case of SDHB negative multifocal gastric GIST with epithelioid morphology in a 12 year old female child.