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Title: Prognostic value of KIT/PDGFRA mutations in gastrointestinal stromal tumours (GIST): Polish Clinical GIST Registry experience
Authors: Wozniak, Agnieszka ×
Rutkowski, P
Piskorz, A
Ciwoniuk, M
Osuch, C
Bylina, E
Sygut, J
Chosia, M
Rys, J
Urbanczyk, K
Kruszewski, W
Sowa, P
Siedlecki, J
Debiec-Rychter, Maria
Limon, J
on behalf of Polish Clinical GIST Registry #
Issue Date: Feb-2012
Publisher: Kluwer Academic Publishers
Series Title: Annals of Oncology vol:23 issue:2 pages:353-360
Abstract: Background: Majority of gastrointestinal stromal tumours (GISTs) are characterised by KIT-immunopositivity and the presence of KIT/platelet-derived growth factor receptor alpha (PDGFRA) activating mutations. Patients and methods: Spectrum and frequency of KIT and PDGFRA mutations were investigated in 427 GISTs. Univariate and multivariate analysis of relapse-free survival (RFS) was conducted in relation to tumours' clinicopathologic features and genotype. Results: Mutations were found in 351 (82.2%) cases, including 296 (69.3%) KIT and 55 (12.9%) PDGFRA isoforms. Univariate analysis revealed higher 5-year RFS rate in women (37.9%; P = 0.028) and in patients with gastric tumours (46.3%; P < 0.001). In addition a better 5-year RFS correlated with smaller tumour size ≤5 cm (62.7%; P < 0.001), tumours with mitotic index ≤5/50 high-power fields (60%; P < 0.001), and characterised by (very) low/moderate risk (70.2%; P = 0.006). Patients with GISTs bearing deletions encompassing KIT codons 557/558 had worse 5-year RFS rate (23.8%) than those with any other KIT exon 11 mutations (41.8%; P < 0.001) or deletions not involving codons 557/558 (33.3%; P = 0.007). Better 5-year RFS characterised patients with KIT exon 11 point mutations (50.7%) or duplications (40%). By multivariate analysis, tumours with PDGFRA mutations and KIT exon 11 point mutations/other than 557/558 deletions had lower risk of progression than with KIT exon 11 557/558 deletions (both Ps = 0.001). Conclusions: KIT/PDGFRA mutational status has prognostic significance for patients' outcome and may help in management of patients with GISTs.
ISSN: 0923-7534
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
Laboratory of Experimental Oncology
Laboratory for Genetics of Malignant Disorders
× corresponding author
# (joint) last author

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