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Análisis de la implicación de los genes de supresión tumoral TP53, p16INK4, p21WAF1, RB1 y de las enzimas metabolizadoras de drogas en el desarrollo de tumores óseos en niños
Other Titles: Analysis of the involvement of the tumour suppressor genes TP53, p16INK4, p21WAF1, RB1 and the drugs metabolizing enzymes in the development of bone tumours in children
Authors: Patiño, A. (Ana)
Sotillo, E. (Elena)
Lopez-de-la-Mesa, R. (R.)
Sierrasesumaga, L. (Luis)
Keywords: Tumour suppressor genes TP53
p21WAF1, RB1
Issue Date: 2000
Publisher: Gobierno de Navarra. Departamento de Salud
Publisher version: http://www.cfnavarra.es/salud/anales/textos/index23_1.html
ISSN: 1137-6627
Citation: Patino A, Sotillo E, Lopez De Mesa R, Sierrasesumaga L. Análisis de la implicación de los genes de supresión tumoral TP53, p16INK4, p21WAF1, RB1 y de las enzimas metabolizadoras de drogas en el desarrollo de tumores óseos en niños. An Sist Sanit Navar 2000 Jan-Apr;23(1):25-34.
Abstract
Several tumor suppressor genes such as p16INK4, TP53, RB1 y p21WAF1 are involved in cell cycle regulation in response to DNA damage and belong to the complex pathway that regulates cell proliferation and/or differentiation. We have investigated the presence of mutations in those genes and polymorphisms of Drug Metabolizing Enzymes that could be involved in the development of pediatric bone tumors or in their outcome. MATERIALS AND METHODS: By means of PCR-based techniques, we have analyzed the presence of variations in the coding sequence of p16INK4, TP53, RB1 y p21WAF1 and of the Drug Metabolizing Enzymes in a group of 82 osteosarcomas and 47 Ewing's sarcomas as well as in a control group of 115 healthy children. RESULTS: We detected mutations of the TP53 gene in about 25% of the samples analyzed, most frequently in association with tumors of poor prognosis or reduced survival. The p16INK4 gene was homozygously deleted in 18% of the osteosarcomas, also associated with poor prognosis and unfavourable histologic subtypes; RB1 was altered in 21% of the osteosarcomas. We did not detect relevant associations between polymorphisms of the Drug Metabolizing Enzymes or mutation of the p21WAF1 and development of pediatric bone tumors. CONCLUSIONS: Alteration of TP53, p16INK4 and p21WAF1 seems to be involved in the development of pediatr
Permanent link: http://hdl.handle.net/10171/22858
Appears in Collections:DA - Medicina - Pediatría - Artículos de revista
DA - CUN - Pediatría - Artículos de revista

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