Retinoblastoma risk factors
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Simrat Sarai, M.D. [2]
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Overview
Common risk factors in the development of retinoblastoma are advanced paternal age, positive family history, and viral exposure.[1][2][3]
Risk Factors
Family history
- Approximately 10% of patients with retinoblastoma have a previously established family history of the disease.[1] In patients with bilateral retinoblastoma, unilateral retinoblastoma with a family history, or unilateral retinoblastoma with a proven RB1 somatic mutation there is 50 percent risk of passing the mutation on to their offspring. The risk of retinoblastoma may also be increased among siblings of a patient with retinoblastoma as one parent may have somatic mosaicism for the RB1 deletion or may be a silent carrier of RB1 mutation.[4]
- The magnitude of risk among offspring of the proband depends upon the tumor presentation in the proband (ie, unilateral or bilateral; unifocal or multifocal).
HPV virus exposure
- The presence of HPV sequences in retinoblastoma tumor tissue may play a role in the development of sporadic retinoblastoma.[2]
- There is evidence suggesting that the mutations of RB1 are more common during spermatogenesis than oogenesis.[3]
Environmental factors
- Epidemiologic data indicated that retinoblastoma has higher incidence in some geographic areas.
- The table below provides regions with highest incidence rate of retinoblastoma.
| Country | Incidence |
|---|---|
| Mali | |
| Uganda | 2.4 |
| Zimbabwe | 2.33 |
| Hawaii | 2.25 |
| India | 1.96 |
| Vietnam | 1.89 |
| Singapore | 1.88 |
| New Zealand | (1.78-1.86) |
| Spain | 1.78 |
| Philippines | 1.74 |
| Colombia | 1.71 |
| Ecuador | 1.66 |
| Nigeria | 1.61 |
| Costa Rica | 1.57 |
| Peru | 1.55 |
References
- ↑ 1.0 1.1 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.
- ↑ 2.0 2.1 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.
- ↑ 3.0 3.1 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.
- ↑ Rushlow D, Piovesan B, Zhang K, Prigoda-Lee NL, Marchong MN, Clark RD; et al. (2009). "Detection of mosaic RB1 mutations in families with retinoblastoma". Hum Mutat. 30 (5): 842–51. doi:10.1002/humu.20940. PMID 19280657.