title: Spectrum of KIT/PDGFRA/BRAF mutations and Phosphatidylinositol-3-Kinase pathway gene alterations in gastrointestinal stromal tumors (GIST).
abstract: Pathogenetic pathways of gastrointestinal stromal tumors (GIST) lacking mutations in KIT and PDGFRA (∼15%) are still poorly studied. Nearly nothing is known about PI3K alterations in GISTs and only a few GISTs with BRAF mutations have been reported. BRAF mutations (V600E) were found in 3/87 tumors (3.5%) concomitantly were wild type for KIT and PDGFRA. No mutations were detected in KRAS, NRAS, and FGFR3. For the first-time we demonstrated a PIK3CA mutation (H1047L) simultaneously occurring with a 15-bp deletion in KIT exon 11 in one tumor. We suggest that BRAF mutations are of pathogenetic significance in wild type GISTs. The PI3K pathway should be assessed in future studies.
authors: Institute of Pathology, University Erlangen, Germany.
authors: Marc
authors: M
authors: Daniels
authors: Irene
authors: I
authors: Lurkin
authors: Roland
authors: R
authors: Pauli
authors: Erhard
authors: E
authors: Erbstösser
authors: Uwe
authors: U
authors: Hildebrandt
authors: Karsten
authors: K
authors: Hellwig
authors: Uwe
authors: U
authors: Zschille
authors: Petra
authors: P
authors: Lüders
authors: Gabriele
authors: G
authors: Krüger
authors: Jürgen
authors: J
authors: Knolle
authors: Bernd
authors: B
authors: Stengel
authors: Friedrich
authors: F
authors: Prall
authors: Kay
authors: K
authors: Hertel
authors: Hartmut
authors: H
authors: Lobeck
authors: Brigitte
authors: B
authors: Popp
authors: Franz
authors: F
authors: Theissig
authors: Peter
authors: P
authors: Wünsch
authors: Ellen
authors: E
authors: Zwarthoff
authors: Abbas
authors: A
authors: Agaimy
authors: Regine
authors: R
authors: Schneider-Stock
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000595:Amino Acid Sequence; D058534:Class I Phosphatidylinositol 3-Kinases; D004252:DNA Mutational Analysis; D005260:Female; D046152:Gastrointestinal Stromal Tumors / Q000201:enzymology* / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D019869:Phosphatidylinositol 3-Kinases / Q000235:genetics* / Q000378:metabolism; D048493:Proto-Oncogene Proteins B-raf / Q000235:genetics* / Q000378:metabolism; D019009:Proto-Oncogene Proteins c-kit / Q000235:genetics* / Q000378:metabolism; D020796:Receptor, Platelet-Derived Growth Factor alpha / Q000235:genetics* / Q000378:metabolism; D015398:Signal Transduction
chemical_list: D019869:Phosphatidylinositol 3-Kinases; D058534:Class I Phosphatidylinositol 3-Kinases; C484760:PIK3CA protein, human; D019009:Proto-Oncogene Proteins c-kit; D020796:Receptor, Platelet-Derived Growth Factor alpha; C482119:BRAF protein, human; D048493:Proto-Oncogene Proteins B-raf