Le retinoblastome: aspects cliniques et diagnostic moleculaire. [Retinoblastoma: clinical and molecular diagnostic aspects]

Details

Serval ID
serval:BIB_97E94DA3626D
Type
Article: article from journal or magazin.
Publication sub-type
Review (review): journal as complete as possible of one specific subject, written based on exhaustive analyses from published work.
Collection
Publications
Institution
Title
Le retinoblastome: aspects cliniques et diagnostic moleculaire. [Retinoblastoma: clinical and molecular diagnostic aspects]
Journal
Schweizerische Rundschau fur Medizin Praxis
Author(s)
Thonney  F., Munier  F. L., Balmer  A., Pescia  G., Schorderet  D. F.
ISSN
1013-2058 (Print)
Publication state
Published
Issued date
08/1996
Volume
85
Number
35
Pages
1058-62
Notes
English Abstract
Journal Article
Research Support, Non-U.S. Gov't
Review --- Old month value: Aug 27
Abstract
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.
Keywords
Child, Preschool Diagnosis, Differential Eye Enucleation Eye Neoplasms/*diagnosis/genetics/mortality/surgery Genes, Retinoblastoma/genetics Humans Infant Retinoblastoma/*diagnosis/genetics/mortality/surgery Survival Rate
Pubmed
Create date
28/01/2008 12:58
Last modification date
20/08/2019 14:59
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