Article

Spectrum of KIT/PDGFRA/BRAF mutations and Phosphatidylinositol-3-Kinase pathway gene alterations in gastrointestinal stromal tumors (GIST).

Institute of Pathology, University Erlangen, Germany.
Cancer letters (impact factor: 4.86). 08/2011; 312(1):43-54. DOI:10.1016/j.canlet.2011.07.029 pp.43-54
Source: PubMed

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.

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Keywords

15-bp deletion
 
FGFR3
 
future studies
 
gastrointestinal stromal tumors
 
GISTs
 
KIT exon 11
 
KRAS
 
Pathogenetic pathways
 
pathogenetic significance
 
PI3K alterations
 
PI3K pathway
 
PIK3CA mutation
 
wild type GISTs