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.

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Keywords BRAF, Gastrointestinal stromal tumor (GIST), KIT, PI3K, PIK3CA, Platelet derived growth factor receptor alpha (PDGFRA)
Persistent URL dx.doi.org/10.1016/j.canlet.2011.07.029, hdl.handle.net/1765/33793
Citation
Daniels, M, Lurkin, I, Pauli, R, Erbstößer, E, Hildebrandt, U, Hellwig, K, … Schneider-Stock, R. (2011). Spectrum of KIT/PDGFRA/BRAF mutations and Phosphatidylinositol-3-Kinase pathway gene alterations in gastrointestinal stromal tumors (GIST). Cancer Letters, 312(1), 43–54. doi:10.1016/j.canlet.2011.07.029