Retinoblastoma

Détails

ID Serval
serval:BIB_101D7F3D51F6
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Synthèse (review): revue aussi complète que possible des connaissances sur un sujet, rédigée à partir de l'analyse exhaustive des travaux publiés.
Collection
Publications
Titre
Retinoblastoma
Périodique
Nature Reviews. Disease Primers
Auteur(s)
Dimaras H., Corson T.W., Cobrinik D., White A., Zhao J., Munier F.L., Abramson D.H., Shields C.L., Chantada G.L., Njuguna F., Gallie B.L.
ISSN
2056-676X (Electronic)
ISSN-L
2056-676X
Statut éditorial
Publié
Date de publication
2015
Peer-reviewed
Oui
Volume
1
Pages
15021
Langue
anglais
Notes
Publication types: Journal Article Publication Status: epublish
Résumé
Retinoblastoma is a rare cancer of the infant retina that is diagnosed in approximately 8,000 children each year worldwide. It forms when both retinoblastoma gene (RB1) alleles are mutated in a susceptible retinal cell, probably a cone photoreceptor precursor. Loss of the tumour-suppressive functions of the retinoblastoma protein (pRB) leads to uncontrolled cell division and recurrent genomic changes during tumour progression. Although pRB is expressed in almost all tissues, cone precursors have biochemical and molecular features that may sensitize them to RB1 loss and enable tumorigenesis. Patient survival is >95% in high-income countries but <30% globally. However, outcomes are improving owing to increased disease awareness for earlier diagnosis, application of new guidelines and sharing of expertise. Intra-arterial and intravitreal chemotherapy have emerged as promising methods to salvage eyes that with conventional treatment might have been lost. Ongoing international collaborations will replace the multiple different classifications of eye involvement with standardized definitions to consistently assess the eligibility, efficacy and safety of treatment options. Life-long follow-up is warranted, as survivors of heritable retinoblastoma are at risk for developing second cancers. Defining the molecular consequences of RB1 loss in diverse tissues may open new avenues for treatment and prevention of retinoblastoma, as well as second cancers, in patients with germline RB1 mutations.
Pubmed
Web of science
Création de la notice
11/10/2016 15:30
Dernière modification de la notice
20/08/2019 12:36
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