title: Downregulation of CIC does not associate with overexpression of ETV1 or MAP kinase pathway activation in gastrointestinal stromal tumors.
abstract: ETV1 is a key factor in gastrointestinal stromal tumors (GIST), and is promoted by CIC downregulation in melanoma. We investigated CIC, ETV1, and the MAPK pathway in GIST. Downregulation of CIC protein levels as assessed by immunostaining was seen in 17/144 GIST, but was not associated with ETV1 or pMEK1/2 expression, KIT and PDGFRA mutations, copy number variations (CNV) of 19q13, and clinical factors. However, the data indicate that the incidence of CIC downregulation may differ for GISTs in different locations in the gastrointestinal tract, and that CNV of 19q13 is associated with shorter disease-free survival.
authors.affiliation: Department of Surgery,1.
authors.forename: Sebastian F
authors.initials: SF
authors.lastname: Schoppmann
authors.forename: Gerda
authors.initials: G
authors.lastname: Ricken
authors.forename: Aysegül
authors.initials: A
authors.lastname: Ilhan-Mutlu
authors.forename: Nadine
authors.initials: N
authors.lastname: Nirtl
authors.forename: Berthold
authors.initials: B
authors.lastname: Streubel
authors.forename: Matthias
authors.initials: M
authors.lastname: Preusser
authors.forename: Peter
authors.initials: P
authors.lastname: Birner
mesh_terms: D002888:Chromosomes, Human, Pair 19 / Q000235:genetics; D056915:DNA Copy Number Variations; D004268:DNA-Binding Proteins / Q000096:biosynthesis / Q000235:genetics* / Q000378:metabolism; D015536:Down-Regulation; D005260:Female; D005770:Gastrointestinal Neoplasms / Q000235:genetics* / Q000473:pathology; D046152:Gastrointestinal Stromal Tumors / Q000235:genetics* / Q000473:pathology; D041981:Gastrointestinal Tract / Q000473:pathology; D018628:Gene Dosage; D006801:Humans; D020935:MAP Kinase Signaling System / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D020928:Mitogen-Activated Protein Kinases / Q000096:biosynthesis / Q000235:genetics*; D019009:Proto-Oncogene Proteins c-kit / Q000235:genetics; D012333:RNA, Messenger / Q000096:biosynthesis; D020796:Receptor, Platelet-Derived Growth Factor alpha / Q000235:genetics; D012097:Repressor Proteins / Q000096:biosynthesis / Q000235:genetics*; D014157:Transcription Factors / Q000096:biosynthesis / Q000235:genetics* / Q000378:metabolism
chemical_list: C498610:CIC protein, human; D004268:DNA-Binding Proteins; C095239:ETV1 protein, human; D012333:RNA, Messenger; D012097:Repressor Proteins; D014157:Transcription Factors; D019009:Proto-Oncogene Proteins c-kit; D020796:Receptor, Platelet-Derived Growth Factor alpha; D020928:Mitogen-Activated Protein Kinases
keywords: 19q; CIC; ETV1; GIST; KIT; MAPK