Prognosis and predictive value of KIT exon 11 deletion in GISTs.

摘要: Gastrointestinal stromal tumours (GISTs) are the most frequent mesenchymal of digestive tract and occur typically in stomach for two-third or small intestine 25% series (Emile et al, 2004). Gain function mutations either KIT platelet-derived growth factor receptor alpha polypeptide (PDGFRA) tyrosine kinases play a critical role GIST pathogenesis, found 85% GISTs (Rubin 2007). Many types gain PDGFRA have been described GISTs, but 60% occurred within exon 11 (Corless 2004; Emile 2004), which comprises 33 codons (codons 550–582). The two tyrosines Tyr568 Tyr570, first residues to be phosphorylated during activation, consensus sites binding Src family could implicated activation different signalling pathways (Roskoski, 2005). More than 90 published, consist insertions, substitutions deletions; however, delWK557–558, proximal part 11, is frequent, accounting 8–25% mutations. Others deletions, distal exon, include particular deletions and/or may thus more specific effects on degradation. Such account 3–8% published (Ernst 1998; Taniguchi 1999; Debiec-Rychter 2004, 2006; Wardelmann Martin 2005; Penzel Andersson DeMatteo 2008). After surgical resection, type prognostic relapse. affecting 557–558 were independent adverse factors patients with (Wardelmann 2003; 2008). Conversely, another study, last 562–579) was deleted frequently associated malignancy deletion 550–561; 2006). So, value some risk relapse still debated. mutational status predictive clinical response imatinib (Glivec, Gleevec, Novartis, Basel, Switzerland) best results obtained harbouring (Heinrich Nevertheless, survival under remains determined. Thus, better understand significance we compared characteristics outcome both Tyr570 delWK557–558.