Correlation between mutational status and survival and second cancer risk assessment in patients with gastrointestinal stromal tumors : a population-based study
Rubió Casadevall, Jordi (Institut Català d'Oncologia)
Borràs, Joan Lluis (Hospital Universitari Sant Joan de Reus (Tarragona))
Carmona-Garcia, M. Carmen (Institut d'Investigació Biomèdica de Girona)
Ameijide, Alberto (Universitat Rovira i Virgili. Fundació per a la Investigació i Prevenció del Càncer)
Gonzalez-Vidal, Allan (Institut d'Investigació Biomèdica Sant Pau)
Ortiz, Maria Rosa (Hospital Universitari de Girona Doctor Josep Trueta)
Bosch Príncep, Ramon (Hospital de Tortosa Verge de la Cinta)
Riu, Francesc (Hospital Universitari Sant Joan de Reus (Tarragona))
Parada, David (Hospital Universitari Sant Joan de Reus (Tarragona))
Martí, Esther (Hospital Sant Pau i Santa Tecla (Tarragona))
Miró, Josefina (Clinica Girona Departament de Patologia)
Sirvent, Juan Jose (Hospital Universitari Joan XXIII de Tarragona)
Galceran, Jaume (Red Temática de Investigación Cooperativa en Cáncer (RTICC), Girona, Spain)
Marcos-Gragera, Rafael (Institut d'Investigació Biomèdica de Girona)
Universitat Autònoma de Barcelona

Fecha:	2015
Resumen:	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. 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. 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. 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.
Derechos:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.
Lengua:	Anglès
Documento:	Article ; recerca ; Versió publicada
Materia:	Gastrointestinal stromal tumors ; Sarcoma ; Survival ; Epidemiology ; Registries ; C-KIT ; BRAF ; PDGFR ; Second primary cancer
Publicado en:	World Journal of Surgical Oncology, Vol. 13 (february 2015) , ISSN 1477-7819

DOI: 10.1186/s12957-015-0474-0
PMID: 25885906

9 p, 403.1 KB

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