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Spectrum of KIT/PDGFRA/BRAF Mutations and Phosphatidylinositol-3-Kinase Pathway Gene Alterations in Gastrointestinal Stromal Tumors (GIST)
KIT/PDGFRA/BRAF Mutations and PI3K Alterations in GIST
M Daniels, I Lurkin, R Pauli, R Schneider-Stock, et al
20111115
2011 Dec 15
Cancer Lett
Spectrum of KIT/PDGFRA/BRAF Mutations and Phosphatidylinositol-3-Kinase Pathway Gene Alterations in Gastrointestinal Stromal Tumors (GIST)
Cancer Lett. 2011 Dec 15;312(1):43-54, M Daniels, I Lurkin, R Pauli, R Schneider-Stock, et al
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Abstract
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...
