The Impact of Cell-Free DNA Analysis on the Management of Retinoblastoma
Retinoblastoma is a childhood eye cancer, mainly caused by mutations in the <i>RB1</i> gene, which can be somatic or constitutional. Unlike many other cancers, tumour biopsies are not performed due to the risk of tumour dissemination. As a result, until recently, somatic genetic analysis...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
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MDPI AG
2021-03-01
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| Series: | Cancers |
| Subjects: | |
| Online Access: | https://www.mdpi.com/2072-6694/13/7/1570 |
| _version_ | 1797539599101198336 |
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| author | Amy Gerrish Helen Jenkinson Trevor Cole |
| author_facet | Amy Gerrish Helen Jenkinson Trevor Cole |
| author_sort | Amy Gerrish |
| collection | DOAJ |
| description | Retinoblastoma is a childhood eye cancer, mainly caused by mutations in the <i>RB1</i> gene, which can be somatic or constitutional. Unlike many other cancers, tumour biopsies are not performed due to the risk of tumour dissemination. As a result, until recently, somatic genetic analysis was only possible if an affected eye was removed as part of a treatment. Several recent proof of principle studies have demonstrated that the analysis of tumour-derived cell-free DNA, either obtained from ocular fluid or blood plasma, has the potential to advance the diagnosis and influence the prognosis of retinoblastoma patients. It has been shown that a confirmed diagnosis is possible in retinoblastoma patients undergoing conservative treatment. In vivo genetic analysis of retinoblastoma tumours is also now possible, allowing the potential identification of secondary genetic events as prognostic biomarkers. In addition, noninvasive prenatal diagnosis in children at risk of inheriting retinoblastoma has been developed. Here, we review the current literature and discuss the potential impact of cell-free DNA analysis on both the diagnosis and treatment of retinoblastoma patients and their families. |
| first_indexed | 2024-03-10T12:48:09Z |
| format | Article |
| id | doaj.art-2ac9e8108ed64d7f9be05263fc415062 |
| institution | Directory Open Access Journal |
| issn | 2072-6694 |
| language | English |
| last_indexed | 2024-03-10T12:48:09Z |
| publishDate | 2021-03-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Cancers |
| spelling | doaj.art-2ac9e8108ed64d7f9be05263fc4150622023-11-21T13:15:59ZengMDPI AGCancers2072-66942021-03-01137157010.3390/cancers13071570The Impact of Cell-Free DNA Analysis on the Management of RetinoblastomaAmy Gerrish0Helen Jenkinson1Trevor Cole2West Midlands Regional Genetics Service, Birmingham Women’s and Children’s NHS Foundation Trust, Birmingham B15 2TG, UKDepartment of Paediatric Oncology, Birmingham Women’s and Children’s NHS Foundation Trust, Birmingham B4 6NH, UKWest Midlands Regional Genetics Service, Birmingham Women’s and Children’s NHS Foundation Trust, Birmingham B15 2TG, UKRetinoblastoma is a childhood eye cancer, mainly caused by mutations in the <i>RB1</i> gene, which can be somatic or constitutional. Unlike many other cancers, tumour biopsies are not performed due to the risk of tumour dissemination. As a result, until recently, somatic genetic analysis was only possible if an affected eye was removed as part of a treatment. Several recent proof of principle studies have demonstrated that the analysis of tumour-derived cell-free DNA, either obtained from ocular fluid or blood plasma, has the potential to advance the diagnosis and influence the prognosis of retinoblastoma patients. It has been shown that a confirmed diagnosis is possible in retinoblastoma patients undergoing conservative treatment. In vivo genetic analysis of retinoblastoma tumours is also now possible, allowing the potential identification of secondary genetic events as prognostic biomarkers. In addition, noninvasive prenatal diagnosis in children at risk of inheriting retinoblastoma has been developed. Here, we review the current literature and discuss the potential impact of cell-free DNA analysis on both the diagnosis and treatment of retinoblastoma patients and their families.https://www.mdpi.com/2072-6694/13/7/1570retinoblastomacell-free DNAliquid biopsynoninvasive prenatal diagnosis |
| spellingShingle | Amy Gerrish Helen Jenkinson Trevor Cole The Impact of Cell-Free DNA Analysis on the Management of Retinoblastoma Cancers retinoblastoma cell-free DNA liquid biopsy noninvasive prenatal diagnosis |
| title | The Impact of Cell-Free DNA Analysis on the Management of Retinoblastoma |
| title_full | The Impact of Cell-Free DNA Analysis on the Management of Retinoblastoma |
| title_fullStr | The Impact of Cell-Free DNA Analysis on the Management of Retinoblastoma |
| title_full_unstemmed | The Impact of Cell-Free DNA Analysis on the Management of Retinoblastoma |
| title_short | The Impact of Cell-Free DNA Analysis on the Management of Retinoblastoma |
| title_sort | impact of cell free dna analysis on the management of retinoblastoma |
| topic | retinoblastoma cell-free DNA liquid biopsy noninvasive prenatal diagnosis |
| url | https://www.mdpi.com/2072-6694/13/7/1570 |
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