1. Molecular diagnosis in patients with retinoblastoma: Report of a series of cases.
- Author
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Ossandón D, Zanolli M, López JP, Benavides F, Pérez V, and Repetto GM
- Subjects
- Child, Preschool, Chile, Chromosome Deletion, Chromosome Disorders diagnosis, Chromosome Disorders genetics, Chromosomes, Human, Pair 13 genetics, DNA Mutational Analysis, DNA, Neoplasm blood, DNA, Neoplasm isolation & purification, Eye Neoplasms blood, Eye Neoplasms chemistry, Eye Neoplasms diagnosis, Female, Humans, Infant, Male, Mosaicism, Mutation, Neoplasms, Multiple Primary blood, Neoplasms, Multiple Primary chemistry, Neoplasms, Multiple Primary diagnosis, Neoplasms, Multiple Primary genetics, Polymorphism, Single Nucleotide, Retinoblastoma blood, Retinoblastoma chemistry, Retinoblastoma diagnosis, Sequence Analysis, DNA methods, DNA, Neoplasm genetics, Eye Neoplasms genetics, Genes, Retinoblastoma, Oligonucleotide Array Sequence Analysis, Retinoblastoma genetics, Retinoblastoma Binding Proteins genetics, Ubiquitin-Protein Ligases genetics
- Abstract
Objectives: To report the benefits of genetic diagnosis in patients with retinoblastoma., Method: Observational study. Patients with retinoblastoma and their families were included. Demographic and clinical data were recorded. Blood and tumour samples were obtained. Next generation sequencing was performed on the samples. When deletion 13 q syndrome was suspected, cytogenetics microarray was performed (Cytoscan® HD, Affymetrix, Santa Clara, CA, USA), with a high density chip of 1.9 million of non-polymorphic probes and 750 thousand SNP probes., Results: Of the 7 cases were analysed 4 were male. The mean age at diagnosis was 21 months (range 5-36). Three cases had bilateral retinoblastoma, and 4 unilateral. None had family history. In all patients, blood was analysed, and a study was performed on the tissue from 2 unilateral enucleated tumours, in which 6 mutations were identified, all de novo. Just one was novel (c.164delC; case 1). One case of unilateral tumour revealed blood mosaicism, showing that his condition was inheritable, and that there is a high risk of developing retinoblastoma in the unaffected eye. The patient also has an increased risk of presenting with other primary tumours., Conclusion: Molecular diagnosis of RB1 in patients with retinoblastoma impacts on the decision process, costs, treatment, and prognosis of patients, as well as their families., (Copyright © 2016 Sociedad Española de Oftalmología. Published by Elsevier España, S.L.U. All rights reserved.)
- Published
- 2016
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