Correlation between mutational status and survival and second cancer risk assessment in patients with gastrointestinal stromal tumors: a population-based study.

Autor: Rubió-Casadevall J; Medical Oncology Department, Institut Català d'Oncologia de Girona, Girona, Spain. jrubio@iconcologia.net.; Descriptive Epidemiology, Genetics and Cancer Prevention Group, Biomedical Research Institute (IDIBGI), Girona, Spain. jrubio@iconcologia.net.; Faculty of Medicine, University of Girona (UdG), Girona, Catalonia, Spain. jrubio@iconcologia.net., Borràs JL; Medical Oncology Department, Hospital Universitari Sant Joan, Institut d'Investigació Sanitària Pere Virgili (IISPV), Universitat Rovira i Virgili, Reus, Spain. jborras@grupsagessa.com.; Tarragona Cancer Registry, Fundació per a la Investigació i Prevenció del Càncer (FUNCA), IISPV, Universitat Rovira i Virgili, Tarragona, Spain. jborras@grupsagessa.com.; Faculty of Medicine, Universitat Rovira i Virgili, Tarragona, Spain. jborras@grupsagessa.com.; Red Temática de Investigación Cooperativa en Cáncer (RTICC), Girona, Spain. jborras@grupsagessa.com., Carmona-García MC; Descriptive Epidemiology, Genetics and Cancer Prevention Group, Biomedical Research Institute (IDIBGI), Girona, Spain. mccarmonagarcia22@gmail.com.; Epidemiology Unit and Girona Cancer Registry (UERC), Oncology Coordination Plan Department of Health Government of Catalonia, Girona, Spain. mccarmonagarcia22@gmail.com., Ameijide A; Tarragona Cancer Registry, Fundació per a la Investigació i Prevenció del Càncer (FUNCA), IISPV, Universitat Rovira i Virgili, Tarragona, Spain. aameijide@grupsagessa.com., Gonzalez-Vidal A; Department of Pathology, Hospital de la Santa Creu i Sant Pau, Autonomous University of Barcelona, Barcelona, Spain. AGonzalezV@santpau.cat., Ortiz MR; Faculty of Medicine, University of Girona (UdG), Girona, Catalonia, Spain. rortizduran.girona.ics@gencat.cat.; Department of Pathology, University Hospital Josep Trueta, Girona, Spain. rortizduran.girona.ics@gencat.cat., Bosch R; Department of Pathology, University Hospital Verge de la Cinta, Institut d'Investigació Sanitària Pere Virgili (IISPV), Fundació Dr. Ferran (FF), Tortosa, Spain. rbosch.ebre.ics@gencat.cat., Riu F; Faculty of Medicine, Universitat Rovira i Virgili, Tarragona, Spain. friu@grupsagessa.com.; Department of Pathology, University Hospital Sant Joan, Institut d'Investigació Sanitària Pere Virgili (IISPV), Reus, Spain. friu@grupsagessa.com., Parada D; Faculty of Medicine, Universitat Rovira i Virgili, Tarragona, Spain. dparada@grupsagessa.com.; Department of Pathology, University Hospital Sant Joan, Institut d'Investigació Sanitària Pere Virgili (IISPV), Reus, Spain. dparada@grupsagessa.com., Martí E; Department of Pathology, Hospital Santa Tecla, Tarragona, Spain. emc@xarxatecla.cat., Miró J; Department of Pathology, Clinica Girona, Girona, Spain. pmiroap@clinicagirona.cat., Sirvent JJ; Faculty of Medicine, Universitat Rovira i Virgili, Tarragona, Spain. jsirvent.hj23.ics@gencat.cat.; Department of Pathology, University Hospital Joan XXIII, Tarragona, Spain. jsirvent.hj23.ics@gencat.cat., Galceran J; Tarragona Cancer Registry, Fundació per a la Investigació i Prevenció del Càncer (FUNCA), IISPV, Universitat Rovira i Virgili, Tarragona, Spain. jgalceran@grupsagessa.com.; Red Temática de Investigación Cooperativa en Cáncer (RTICC), Girona, Spain. jgalceran@grupsagessa.com., Marcos-Gragera R; Descriptive Epidemiology, Genetics and Cancer Prevention Group, Biomedical Research Institute (IDIBGI), Girona, Spain. rmarcos@iconcologia.net.; Red Temática de Investigación Cooperativa en Cáncer (RTICC), Girona, Spain. rmarcos@iconcologia.net.; Epidemiology Unit and Girona Cancer Registry (UERC), Oncology Coordination Plan Department of Health Government of Catalonia, Girona, Spain. rmarcos@iconcologia.net.
Jazyk: angličtina
Zdroj: World journal of surgical oncology [World J Surg Oncol] 2015 Feb 13; Vol. 13, pp. 47. Date of Electronic Publication: 2015 Feb 13.
DOI: 10.1186/s12957-015-0474-0
Abstrakt: Background: Gastrointestinal stromal tumors are sarcomas of the digestive tract characterized by mutations mainly located in the c-KIT or in the platelet-derived growth factor receptor (PDGFR)-alpha genes. Mutations in the BRAF gene have also been described. Our purpose is to define the distribution of c-KIT, PDGFR and BRAF mutations in a population-based cohort of gastrointestinal stromal tumors (GIST) patients and correlate them with anatomical site, risk classification and survival. In addition, as most of the GIST patients have a long survival, second cancers are frequently diagnosed in them. We performed a second primary cancer risk assessment.
Methods: Our analysis was based on data from Tarragona and Girona Cancer Registries. We identified all GIST diagnosed from 1996 to 2006 and performed a mutational analysis of those in which paraffin-embedded tissue was obtained. Observed (OS) and relative survival (RS) were calculated according to risk classifications and mutational status. Multivariate analysis of variables for observed survival and was also done.
Results: A total of 132 GIST cases were found and we analyzed mutations in 108 cases. We obtained 53.7% of mutations in exon 11 and 7.4% in exon 9 of c-KIT gene; 12% in exon 18 and 1.9% in exon 12 of PDGFR gene and 25% of cases were wild type GIST. Patients with mutations in exon 11 of the c-KIT gene had a 5-year OS and RS of 59.6% and 66.3%, respectively. Patients with mutations in exon 18 of the PDGFR gene had a 5-year OS and RS of 84.6% and 89.7%. In multivariate analysis, only age and risk group achieved statistical significance for observed survival. GIST patients had an increased risk of second cancer with a hazard ratio of 2.47.
Conclusions: This population-based study shows a spectrum of mutations in the c-KIT and PDGFR genes in GIST patients similar to that previously published. The OS and RS of GIST with the exon 18 PDGFR gene mutation could indicate that this subgroup of patients may be less aggressive and have a good prognosis, although less sensitive to treatment at recurrence. In our study, GIST patients have an increased risk of developing a second neoplasm.
Databáze: MEDLINE
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