Retinoblastoma causes
|
Retinoblastoma Microchapters |
|
Diagnosis |
|---|
|
Treatment |
|
Case Studies |
|
Retinoblastoma causes On the Web |
|
American Roentgen Ray Society Images of Retinoblastoma causes |
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]
Overview
Retinoblastoma may be caused by mutation in both alleles 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 of RB1 gene on chromosome 13.[1]
- Somatic amplification of the MYCN oncogene is responsible for some cases of non-hereditary, early-onset, aggressive, and 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 conception. For this reason, preconception exposure to mutagens is hypothesized to be a potential risk factor.[2]
- 13q deletion syndrome may also cause retinoblastoma. However, the tumor tends to occur at a later age and unilaterally.[3]
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.