Titre
Le retinoblastome: aspects cliniques et diagnostic moleculaire. [Retinoblastoma: clinical and molecular diagnostic aspects]
Type
synthèse (review)
Institution
UNIL/CHUV/Unisanté + institutions partenaires
Périodique
Auteur(s)
Thonney, F.
Auteure/Auteur
Munier, F. L.
Auteure/Auteur
Balmer, A.
Auteure/Auteur
Pescia, G.
Auteure/Auteur
Schorderet, D. F.
Auteure/Auteur
Liens vers les personnes
Liens vers les unités
ISSN
1013-2058
Statut éditorial
Publié
Date de publication
1996-08
Volume
85
Numéro
35
Première page
1058
Dernière page/numéro d’article
62
Notes
English Abstract
Journal Article
Research Support, Non-U.S. Gov't
Review --- Old month value: Aug 27
Journal Article
Research Support, Non-U.S. Gov't
Review --- Old month value: Aug 27
Résumé
Retinoblastoma, a tumor of the immature retina concerns babies and young infants in particular. They make up for 14% of malignomas in the first years of life. There are two types of retinoblastoma: In the first two alleles of the gene Rb1 must be inactivated sequentially in the same retinoblast cell until this may escape control. In this case the retinoblastoma is always unilateral and unifocal. This is explained by the lower frequency of two mutations in one retinoblast. The other type, however, is inherited: One allele Rb1 is inactivated in all cells of the organism by mutation. The probability that a second mutation arrives in different retinoblasts is thus high. In this case bilateral multifocal tumors develop. Characterization of the Rb1 gene has permitted identification or at least determination of a haplotype in persons at risk. This knowledge is decisive for early recognition of babies at risk and for genetic counselling.
Sujets
PID Serval
serval:BIB_97E94DA3626D
PMID
Date de création
2008-01-28T11:58:47.199Z
Date de création dans IRIS
2025-05-21T02:43:08Z