Retinoblastoma risk factors
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Simrat Sarai, M.D. [2] Sahar Memar Montazerin, M.D.[3]
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Overview
Risk factors associated with the development of retinoblastoma are mutation in RB1 gene, a positive family history of retinoblastoma, living in areas with high incidence rate of the disease, HPV exposure and other environmental factors.
Risk Factors
Genetic Mutations
- Retinoblastoma has been associated with the following genetic disorders:
- RB1 gene mutation
- Deletion of chromosome 13 long arm of (13q deletion syndrome)[1]
- Fragile-X syndrome
Family History
- Approximately 10% of patients with retinoblastoma have a previously established family history of the disease.[2]
- The magnitude of risk among offsprings of the proband depends upon the tumor presentation in the proband (unilateral or bilateral) and the relationship of the individual to the patient with retinoblastoma.
- The table below provides the estimated risk percentage of developing retinoblastoma in individuals with a positive family history of retinoblastoma:
| Relative of patient | Bilateral involvement (100%) | Unilateral involvement (15%) |
|---|---|---|
| Offspring (infant) | 50 | 7.5 |
| Parent | 5 | 0.8 |
| Sibling | 2.5 | 0.4 |
| Niece/nephew | 1.3 | 0.2 |
| Aunt/uncle | 0.1 | 0.007 |
| First cousin | 0.05 | 0.007 |
| The above table adopted from Ophthalmology journal [3] |
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HPV Exposure
- The presence of HPV sequences in retinoblastoma tumor tissue may play a role in the development of sporadic retinoblastoma.[4]
- There is evidence suggesting that the mutations of RB1 are more common during spermatogenesis than oogenesis.[5]
Environmental Factors
- Epidemiological data indicates that retinoblastoma has higher incidence in some geographic areas. For more information click here.
- Other factors associated with an increased risk of retinoblastoma development include:[6]
- Mother’s use of insect or garden sprays during pregnancy
- Diagnostic x-ray with direct fetal exposure
- Father’s employment as a welder, machinist, or related metal worker
References
- ↑ Clark, Robin D.; Avishay, Stefanie G. (2015). "Retinoblastoma: Genetic Counseling and Testing": 77–88. doi:10.1007/978-3-662-43451-2_8.
- ↑ Richter, Suzanne; Vandezande, Kirk; Chen, Ning; Zhang, Katherine; Sutherland, Joanne; Anderson, Julie; Han, Liping; Panton, Rachel; Branco, Patricia; Gallie, Brenda (2003). "Sensitive and Efficient Detection of RB1 Gene Mutations Enhances Care for Families with Retinoblastoma". The American Journal of Human Genetics. 72 (2): 253–269. doi:10.1086/345651. ISSN 0002-9297.
- ↑ Skalet, Alison H.; Gombos, Dan S.; Gallie, Brenda L.; Kim, Jonathan W.; Shields, Carol L.; Marr, Brian P.; Plon, Sharon E.; Chévez-Barrios, Patricia (2018). "Screening Children at Risk for Retinoblastoma". Ophthalmology. 125 (3): 453–458. doi:10.1016/j.ophtha.2017.09.001. ISSN 0161-6420.
- ↑ Orjuela M, Castaneda VP, Ridaura C, Lecona E, Leal C, Abramson DH; et al. (2000). "Presence of human papilloma virus in tumor tissue from children with retinoblastoma: an alternative mechanism for tumor development". Clin Cancer Res. 6 (10): 4010–6. PMID 11051250.
- ↑ Dryja, Thaddeus P.; Mukai, Shizuo; Petersen, Robert; Rapaport, Joyce M.; Walton, David; Yandell, David W. (1989). "Parental origin of mutations of the retinoblastoma gene". Nature. 339 (6225): 556–558. doi:10.1038/339556a0. ISSN 0028-0836.
- ↑ Singh, Arun (2007). Clinical ophthalmic oncology. Edinburgh: Elsevier Saunders. ISBN 978-1-4160-3167-3.