Gastrointestinal Stromal Tumors With KIT Exon 11 Deletions Are Associated With Poor Prognosis

摘要: Background & Aims: Gain-of-function mutations in the KIT receptor tyrosine kinase gene and rare platelet-derived growth factor α ( PDGFRA ) are important events gastrointestinal stromal tumor (GIST) development. Different reportedly associated with distinctive phenotypes possibly clinical behavior. We investigated correlation among mutation type, phenotype, course a preimatinib, population-based series of GIST long-term follow-up. Methods: Genomic DNA from 177 patients was analyzed for exons 9, 11, 13, 17 12 18 using denaturating high-performance liquid chromatography bidirectional sequencing. Results:KIT exon 11 were detected 101 (61 deletions, 23 missense mutations, duplications); wild-type (WT) 63; 9 6 1, respectively; 3 each. >5 cm vs ≤1 had 73% 33%, respectively. deletions significantly higher proportion high risk or overtly malignant groups compared WT GIST. adversely affected outcome. duplications found exclusively gastric small intestinal GIST, Conclusions: deletion is an independent adverse prognostic