Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Retinoblastoma causes
Introduction
Overview
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
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
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.
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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]