Retinoblastoma causes: Difference between revisions
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{{Retinoblastoma}} | {{Retinoblastoma}} | ||
{{CMG}}; {{AE}} {{Simrat}} {{Sahar}} | |||
==Overview== | ==Overview== | ||
Retinoblastoma may be caused by [[mutation]] in both [[Allele|alleles]] of [[RB1]] [[tumor suppressor gene]] or due to [[somatic]] amplification of the ''MYCN'' [[oncogene]]. | |||
==Causes== | ==Causes== | ||
'''[[Heritable]] Retinoblastoma''' | |||
*In [[Child|children]] with the [[heritable]] [[genetic]] form of retinoblastoma, there is a [[mutation]] of ''[[RB1]]'' [[gene]] on [[chromosome 13]].<ref name="DuPogoriler2006">{{cite journal|last1=Du|first1=W|last2=Pogoriler|first2=J|title=Retinoblastoma family genes|journal=Oncogene|volume=25|issue=38|year=2006|pages=5190–5200|issn=0950-9232|doi=10.1038/sj.onc.1209651}}</ref> | |||
*[[Somatic]] amplification of the ''MYCN'' [[oncogene]] is responsible for some cases of [[Heredity|non-hereditary]], early-onset, aggressive, and unilateral retinoblastoma. | |||
'''Sporadic Heritable Retinoblastoma''' | |||
*The exact cause of the sporadic [[Heritability|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, [[Conception|preconception]] exposure to [[Mutagen|mutagens]] is [[Hypothesis|hypothesized]] to be a potential [[risk factors|risk factor]].<ref>{{cite book | last = Singh | first = Arun | title = Clinical ophthalmic oncology | publisher = Elsevier Saunders | location = Edinburgh | year = 2007 | isbn = 978-1-4160-3167-3 }}</ref> | |||
*[[13q deletion syndrome]] may also cause retinoblastoma. However, the [[tumor]] tends to occur at a later age and unilaterally.<ref name="ClarkAvishay2015">{{cite journal|last1=Clark|first1=Robin D.|last2=Avishay|first2=Stefanie G.|title=Retinoblastoma: Genetic Counseling and Testing|year=2015|pages=77–88|doi=10.1007/978-3-662-43451-2_8}}</ref> | |||
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==References== | ==References== | ||
{{reflist|2}} | {{reflist|2}} | ||
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[[Category:Medicine]] | |||
[[Category:Oncology]] | |||
[[Category:Up-To-Date]] | |||
[[Category:Surgery]] | |||
Latest revision as of 23:59, 29 July 2020
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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]
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.