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Spectrum of KIT/PDGFRA/BRAF mutations and Phosphatidylinositol-3-Kinase pathway gene alterations in gastrointestinal stromal tumors (GIST) |
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| Authors: | Daniels Marc Lurkin Irene Pauli Roland Erbstösser Erhard Hildebrandt Uwe Hellwig Karsten Zschille Uwe Lüders Petra Krüger Gabriele Knolle Jürgen Stengel Bernd Prall Friedrich Hertel Kay Lobeck Hartmut Popp Brigitte Theissig Franz Wünsch Peter Zwarthoff Ellen Agaimy Abbas Schneider-Stock Regine |
| Affiliation: | a Institute of Pathology, University Erlangen, Germany b Department Pathology, Erasmus MC, Rotterdam, The Netherlands c Institute of Pathology, Klinikum Brandenburg, Germany d Institute of Pathology, AMEOS Klinikum St. Salvator, Halberstadt, Germany e Institute of Pathology, Klinikum Quedlinburg, Germany f Institute of Pathology, Klinikum Magdeburg, Germany g Institute of Pathology, Krankenhaus Bautzen, Germany h Practice of Pathology, Stendal, Germany i Institute of Pathology, Kreisklinik Aschersleben-Straßfurt gGmbH, Germany j Institute of Pathology, Städtisches Klinikum Dessau, Germany k Institute of Pathology, KMG Klinikum Güstrow GmbH, Germany l Institute of Pathology, University Rostock, Germany m Institute of Pathology, HELIOS Klinikum, Erfurt, Germany n Institute of Pathology, Ernst von Bergmann Klinikum, Potsdam, Germany o Practice of Pathology, Ingolstadt, Germany p Institute of Pathology, Carl-Thiem-Klinikum, Cottbus, Germany q Institute of Pathology, Klinikum Nürnberg, Germany |
| 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. |
| Keywords: | Gastrointestinal stromal tumor (GIST) KIT Platelet derived growth factor receptor alpha (PDGFRA) BRAF PI3K PIK3CA |
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