Prognostic value of KIT/PDGFRA mutations in gastrointestinal stromal tumours (GIST): Polish Clinical GIST Registry experience
| Autor: | Katarzyna Urbańczyk, Czesław Osuch, Piotr Rutkowski, Maria Debiec-Rychter, Wiesław Janusz Kruszewski, J. Rys, Anna M. Piskorz, M. Ciwoniuk, Elżbieta Bylina, Maria Chosia, Agnieszka Wozniak, Jacek Sygut, Janusz Limon, P. Sowa, Janusz A. Siedlecki |
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| Rok vydání: | 2011 |
| Předmět: |
Oncology
Adult Male medicine.medical_specialty Pathology Receptor Platelet-Derived Growth Factor alpha Adolescent Gastrointestinal Stromal Tumors PDGFRA medicine.disease_cause Young Adult Growth factor receptor Internal medicine Genotype medicine Humans Child Aged Aged 80 and over Mutation Univariate analysis GiST business.industry Imatinib Hematology Middle Aged Gastrointestinal stromal tumours Prognosis digestive system diseases Proto-Oncogene Proteins c-kit Female business medicine.drug |
| Zdroj: | Annals of oncology : official journal of the European Society for Medical Oncology. 23(2) |
| ISSN: | 1569-8041 |
| Popis: | 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.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.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%; P0.001). In addition a better 5-year RFS correlated with smaller tumour size ≤ 5 cm (62.7%; P0.001), tumours with mitotic index ≤ 5/50 high-power fields (60%; P0.001), 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%; P0.001) 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).KIT/PDGFRA mutational status has prognostic significance for patients' outcome and may help in management of patients with GISTs. |
| Databáze: | OpenAIRE |
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