ArticleEuropean journal of human genetics : EJHG2015
Next generation sequencing in sporadic retinoblastoma patients reveals somatic mosaicism.
Article in European journal of human genetics : EJHG, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 46 citations in OpenAlex.
- Tumor heterogeneity in retinoblastoma: a literature review.Cancer metastasis reviews · 2025Review
- The Potential of Aqueous Humor Sampling in Diagnosis, Prognosis, and Treatment of Retinoblastoma.Investigative ophthalmology & visual science · 2024Review
- Mutational analysis of theFrontiers in medicine · 2024Article
- Ophthalmic genetic counselling: emerging trends in practice perspectives in Asia.Journal of community genetics · 2023Article
- Germline RB1 Mutation in Retinoblastoma Patients: Detection Methods and Implication in Tumor Focality.Translational vision science & technology · 2022Article
- Retinoblastoma genetics screening and clinical management.BMC medical genomics · 2021Article
- Phenocopy of a heterozygous carrier of X-linked retinitis pigmentosa due to mosaicism for a RHO variant.Scientific reports · 2021Article
- Molecular Changes in Retinoblastoma beyondCancers · 2021Article
- Spectrum of germline mutations in RB1 in Chinese patients with retinoblastoma: Application of targeted next-generation sequencing.Molecular vision · 2021Article
- Simultaneous identification of clinically relevantOphthalmic genetics · 2020Article
- Systemic and ocular manifestations of a patient with mosaic ARID1A-associated Coffin-Siris syndrome and review of select mosaic conditions with ophthalmic manifestations.American journal of medical genetics. Part C, Seminars in medical genetics · 2020Review
- Genetic Predisposition to Solid Pediatric Cancers.Frontiers in oncology · 2020Review
- Spectrum ofFrontiers in genetics · 2020Article
- TheGenes · 2019Review
- Constitutional Mosaic Epimutations - a hidden cause of cancer?Cell stress · 2019Review
- Somatic Mosaicism of IDH1 R132H Predisposes to Anaplastic Astrocytoma: A Case of Two Siblings.Frontiers in oncology · 2019Article
- Parent-of-origin effect of hypomorphic pathogenic variants and somatic mosaicism impact on phenotypic expression of retinoblastoma.European journal of human genetics : EJHG · 2018Article
- Spectrum of germlineMolecular vision · 2018Article
- Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy.Orphanet journal of rare diseases · 2017Article
- Mutation spectrum of RB1 mutations in retinoblastoma cases from Singapore with implications for genetic management and counselling.PloS one · 2017Article
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Authors and funding
19 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
In about 50% of sporadic cases of retinoblastoma, no constitutive RB1 mutations are detected by conventional methods. However, recent research suggests that, at least in some of these cases, there is somatic mosaicism with respect to RB1 normal and mutant alleles. The increased availability of next generation sequencing improves our ability to detect the exact percentage of patients with mosaicism. Using this technology, we re-tested a series of 40 patients with sporadic retinoblastoma: 10 of them had been previously classified as constitutional heterozygotes, whereas in 30 no RB1 mutations had been found in lymphocytes. In 3 of these 30 patients, we have now identified low-level mosaic variants, varying in frequency between 8 and 24%. In 7 out of the 10 cases previously classified as heterozygous from testing blood cells, we were able to test additional tissues (ocular tissues, urine and/or oral mucosa): in three of them, next generation sequencing has revealed mosaicism. Present results thus confirm that a significant fraction (6/40; 15%) of sporadic retinoblastoma cases are due to postzygotic events and that deep sequencing is an efficient method to unambiguously distinguish mosaics. Re-testing of retinoblastoma patients through next generation sequencing can thus provide new information that may have important implications with respect to genetic counseling and family care.
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