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.

Overview