Prognostic relevance of genetic aberrations in gastrointestinal stromal tumors.

• DOI: 10.1200/jco.2011.29.4_suppl.49
• Publication Date: 2017-02-23T18:48:23Z
• Authors: N. N. Mazurenko; I. S. Beliakov; I. V. Tsyganova; E. M. Bardina; O. A. Anurova; I. M. Gagarin; E. V. Skoromislova; P. P. Arhiri; M. P. Nikulin; I. S. Stilidi
• Keywords: PDGFRA; Proto-Oncogene Proteins c-kit

49 Background: Gastrointestinal stromal tumours (GISTs) contain oncogenic KIT or PDGFRA tyrosine kinase (TK) mutations leading to disturbance of downstream signaling pathways that contribute GIST pathogenesis. Additional genetic aberrations were found in GISTs, demonstrating the involvement other genes important tumor progression. The aim study was evaluate prognostic relevance different TK GISTs and analyze additional according mutational status. Methods: 180 patients examined for (9, 11, 13, 17 exons) (12, 14, 18 by direct sequencing DNA obtained from microdissected sections. Tumor tissue 44 screened loss heterozygosity (LOH) at 11 microsatellite loci on 1p, 9p, 14q, 15q 22q arms. Results: identified 76.1% 10% respectively. 13.9% had no (wild type). Most located exon (65%) 9 (9.4%). Prognostic significance evaluated. There a trend better survival with mutation then wild type GISTs. higher overall prior target therapy shown duplication point comparison deletion. Analysis LOH revealed allelic deletions 85% more frequently 14q arm. pattern subgroups while high frequency also 22q, 1p occurred all chromosomes low frequency. 9p exclusively metastatic recurrent Specific gene frequent may be contributed Conclusions: are associated prognosis. Tumors duplications mutations. No significant financial relationships disclose.