Author/Authors :
Daniels، نويسنده , , Marc and Lurkin، نويسنده , , Irene and Pauli، نويسنده , , Roland and Erbstِكer، نويسنده , , Erhard and Hildebrandt، نويسنده , , Uwe and Hellwig، نويسنده , , Karsten and Zschille، نويسنده , , Uwe and Lüders، نويسنده , , Petra and Krüger، نويسنده , , Gabriele and Knolle، نويسنده , , Jürgen and Stengel، نويسنده , , Bernd and Prall، نويسنده , , Friedrich and Hertel، نويسنده , , Kay and Lobeck، نويسنده , , Hartmut and Popp، نويسنده , , Brigitte and Theissig، نويسنده , , Franz and Wünsch، نويسنده , , Peter and Zwarthoff، نويسنده , , Ellen and Agaimy، نويسنده , , Abbas and Schneider-Stock، نويسنده , , Regine، نويسنده ,
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 , BRAF , Platelet derived growth factor receptor alpha (PDGFRA) , PI3K , PIK3CA
