title: Simultaneous KIT mutation and succinate dehydrogenase (SDH) deficiency in a patient with a gastrointestinal stromal tumour and Carney-Stratakis syndrome: a case report.
authors.affiliation: Department of Medical Oncology, Institut Català d'Oncologia, L'Hospitalet de Llobregat, Barcelona, Spain.
authors.forename: Maria
authors.initials: M
authors.lastname: Jové
authors.forename: Jaume
authors.initials: J
authors.lastname: Mora
authors.forename: Xavier
authors.initials: X
authors.lastname: Sanjuan
authors.forename: Eva
authors.initials: E
authors.lastname: Rodriguez
authors.forename: Mercedes
authors.initials: M
authors.lastname: Robledo
authors.forename: Leandre
authors.initials: L
authors.lastname: Farran
authors.forename: Xavier
authors.initials: X
authors.lastname: Garcia del Muro
mesh_terms: D000328:Adult; D005770:Gastrointestinal Neoplasms / Q000235:genetics* / Q000473:pathology; D046152:Gastrointestinal Stromal Tumors; D018095:Germ-Line Mutation; D006801:Humans; D008297:Male; D010235:Paraganglioma; D019009:Proto-Oncogene Proteins c-kit / Q000235:genetics*; D013385:Succinate Dehydrogenase / Q000235:genetics*
chemical_list: D013385:Succinate Dehydrogenase; D019009:Proto-Oncogene Proteins c-kit
keywords: carney-stratakis syndrome; gastrointestinal stromal tumour; succinate dehydrogenase gene