Risk assessment of recurrence in sporadic retinoblastoma using a molecular-based algorithm.

Détails

ID Serval
serval:BIB_54877C0149B7
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
Risk assessment of recurrence in sporadic retinoblastoma using a molecular-based algorithm.
Périodique
Ophthalmic Genetics
Auteur(s)
Tran H.V., Schorderet D.F., Gaillard M.C., Balmer A., Munier F.L.
ISSN
1744-5094 (Electronic)
ISSN-L
1381-6810
Statut éditorial
Publié
Date de publication
2012
Peer-reviewed
Oui
Volume
33
Numéro
1
Pages
6-11
Langue
anglais
Notes
Publication types: Journal Article ; Validation Studies
Résumé
PURPOSE: Most RB1 mutations are unique and distributed throughout the RB1 gene. Their detection can be time-consuming and the yield especially low in cases of conservatively-treated sporadic unilateral retinoblastoma (Rb) patients. In order to identify patients with true risk of developing Rb, and to reduce the number of unnecessary examinations under anesthesia in all other cases, we developed a universal sensitive, efficient and cost-effective strategy based on intragenic haplotype analysis.
METHODS: This algorithm allows the calculation of the a posteriori risk of developing Rb and takes into account (a) RB1 loss of heterozygosity in tumors, (b) preferential paternal origin of new germline mutations, (c) a priori risk derived from empirical data by Vogel, and (d) disease penetrance of 90% in most cases. We report the occurrence of Rb in first degree relatives of patients with sporadic Rb who visited the Jules Gonin Eye Hospital, Lausanne, Switzerland, from January 1994 to December 2006 compared to expected new cases of Rb using our algorithm.
RESULTS: A total of 134 families with sporadic Rb were enrolled; testing was performed in 570 individuals and 99 patients younger than 4 years old were identified. We observed one new case of Rb. Using our algorithm, the cumulated total a posteriori risk of recurrence was 1.77.
CONCLUSIONS: This is the first time that linkage analysis has been validated to monitor the risk of recurrence in sporadic Rb. This should be a useful tool in genetic counseling, especially when direct RB1 screening for mutations leaves a negative result or is unavailable.
Mots-clé
Algorithms, Child, Preschool, Genetic Linkage, Genetic Markers, Haplotypes, Humans, Infant, Infant, Newborn, Loss of Heterozygosity, Neoplasm Recurrence, Local/diagnosis, Pedigree, Retinal Neoplasms/diagnosis, Retinal Neoplasms/genetics, Retinoblastoma/diagnosis, Retinoblastoma/genetics, Retinoblastoma Protein/genetics, Risk Assessment, Siblings
Pubmed
Web of science
Open Access
Oui
Création de la notice
24/11/2011 9:33
Dernière modification de la notice
20/08/2019 14:09
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