IMBICE   05372
INSTITUTO MULTIDISCIPLINARIO DE BIOLOGIA CELULAR
Unidad Ejecutora - UE
artículos
Título:
Influence of MDM2 and MDM4 on development and survival in hereditary retinoblastoma.
Autor/es:
DE OLIVEIRA REIS AH, DE CARVALHO IN, DE SOUSA DAMASCENO PB, FERMAN SE, LUCENA E, LOPEZ CAMELO JS, SEUÁNEZ HN, VARGAS FR.
Revista:
PEDIATRIC BLOOD & CANCER
Editorial:
WILEY-LISS, DIV JOHN WILEY & SONS INC
Referencias:
Lugar: New York; Año: 2011
ISSN:
1545-5009
Resumen:
Abstract
BACKGROUND:
Retinoblastoma (RB) accounts for 3% of all childhood malignancies, with
different incidences around the world. This malignancy results from
loss-of-function of both RB1 alleles although other genes, like MDM2 and MDM4,
have been proposed to be involved in tumor development.
PROCEDURE:
We genotyped rs2279744T>G and rs937283A>G in MDM2, and rs4252668T>C
and rs116197192G>A in MDM4, in 104 unrelated RB patients and 104 controls.
Sixty-month survival Kaplan-Meier curves and χ(2) -tests were performed for
estimating the putative effect of MDM2 and MDM4 alleles on disease progression
and survival of RB patients.
RESULTS:
MDM2 rs2279744G was significantly more frequent in controls, indicating an
apparently protective effect on RB development. However, survival of patients
who carried a constitutional RB1 mutation was significantly lower with
rs2279744TG or GG than with rs2279744TT. Presence of rs2279744G and a
constitutional RB1 mutation was sixfold more frequent in the 0-12 month age
group than other age groups at onset of symptoms (P = 0.0401). MDM4 rs4252668C
was present at a significantly higher frequency in controls while the frequency
of MDM4 rs116197192G was significantly higher in RB patients, suggesting that
this allele might increase the risk of developing RB.
CONCLUSION:
Our results indicate that MDM2 and MDM4 polymorphisms may influence
development and/or survival in RB. Pediatr Blood Cancer © 2011 Wiley
Periodicals, Inc.