Retinoblastoma causes
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Retinoblastoma causes On the Web |
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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]
Overview
Retinoblastoma may be caused by mutation in both allels of RB1 tumor suppressor gene or due to somatic amplification of the MYCN oncogene.
Causes
Heritable retinoblastoma
- In children with the heritable genetic form of retinoblastoma there is a mutation on chromosome 13, called the RB1 gene.[1]
- Somatic amplification of the MYCN oncogene is responsible for some cases of non-hereditary, early-onset, aggressive, unilateral retinoblastoma.
Sporadic heritable retinoblastoma
- The exact cause of the sporadic heritable form of the disease is still unclear.
- Since the sporadic form of retinoblastoma occurs due to a new germline mutation, it should occur before the conception. For this reason, preconception exposure to mutagens is hypothesized to be the potential risk factors.[2]
- 13q deletion syndrome may also cause retinoblastoma. However, the tumor tends to occur at a later age and unilaterally.[3]
- For more information click here.
References
- ↑ Du, W; Pogoriler, J (2006). "Retinoblastoma family genes". Oncogene. 25 (38): 5190–5200. doi:10.1038/sj.onc.1209651. ISSN 0950-9232.
- ↑ Singh, Arun (2007). Clinical ophthalmic oncology. Edinburgh: Elsevier Saunders. ISBN 978-1-4160-3167-3.
- ↑ Clark, Robin D.; Avishay, Stefanie G. (2015). "Retinoblastoma: Genetic Counseling and Testing": 77–88. doi:10.1007/978-3-662-43451-2_8.