Prognostic factors associated with loss of heterozygosity at the RB1 locus in retinoblastoma
Details
Serval ID
serval:BIB_602907FF1FED
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Prognostic factors associated with loss of heterozygosity at the RB1 locus in retinoblastoma
Journal
Ophthalmic Genetics
ISSN
1381-6810 (Print)
Publication state
Published
Issued date
03/1997
Volume
18
Number
1
Pages
7-12
Notes
Comparative Study
Journal Article
Research Support, Non-U.S. Gov't --- Old month value: Mar
Journal Article
Research Support, Non-U.S. Gov't --- Old month value: Mar
Abstract
The nature of the tumorigenic mutation was analyzed in 30 retinoblastoma (Rb) tumors (16 non-hereditary and 14 hereditary) and categorized into loss of heterozygosity (LOH) or retention of heterozygosity (non-LOH) at the RB1 locus. These genotypic characteristics were compared with the clinicopathological phenotype for possible correlation. The overall frequency of LOH was roughly 55%, in both hereditary and non-hereditary Rb. The presence of LOH was preferentially associated with differentiated tumors and absence of choroidal invasion. LOH was found in 82% of females versus 33% of males. Finally, LOH-initiated tumors were associated with a significantly younger age at diagnosis in hereditary Rb. In conclusion, the preferential association of LOH with absence of choroidal invasion, tumoral differentiation, and younger age at diagnosis may establish LOH as a prognostic marker in Rb patients.
Keywords
Blotting, Southern
Child, Preschool
Chromosomes, Human, Pair 13/genetics
DNA, Neoplasm/*analysis
Eye Neoplasms/*genetics/pathology
Female
Genes, Retinoblastoma/*genetics
*Heterozygote
Humans
Infant
Male
Neoplasm Staging
Polymerase Chain Reaction
Prognosis
Retinoblastoma/*genetics/pathology
Tumor Markers, Biological
Pubmed
Web of science
Create date
28/01/2008 12:58
Last modification date
20/08/2019 14:17