Retinoblastoma causes: Difference between revisions

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==Overview==
==Overview==
Retinoblastoma may be caused by mutation in both allels of RB1 tumor suppressor gene or due to somatic amplification of the ''MYCN'' [[oncogene]].
[[Retinoblastoma]] may be caused by [[mutation]] in both [[allels]] of [[RB1]] [[tumor suppressor gene]] or due to somatic amplification of the ''MYCN'' [[oncogene]].
==Causes==
==Causes==
'''Heritable retinoblastoma'''
'''[[Heritable]] [[retinoblastoma]]'''
*In children with the heritable genetic form of retinoblastoma there is a [[mutation]] on [[chromosome 13]], called the ''[[RB1]]'' [[gene]].<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>  
*In children with the [[heritable]] genetic form of [[retinoblastoma]] there is a [[mutation]] on [[chromosome 13]], called the ''[[RB1]]'' [[gene]].<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 non-hereditary, early-onset, aggressive, unilateral retinoblastoma.
*Somatic amplification of the ''MYCN'' [[oncogene]] is responsible for some cases of non-hereditary, early-onset, aggressive, unilateral [[retinoblastoma]].
'''Sporadic heritable retinoblastoma'''
'''Sporadic heritable [[retinoblastoma]]'''
*The exact cause of the sporadic heritable form of the disease is still unclear.  
*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.<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>
*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]].<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>
*[[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>
*For more information [[Retinoblastoma risk factors|click here]].
*For more information [[Retinoblastoma risk factors|click here]].
==References==
==References==
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[[Category:Medicine]]
[[Category:Medicine]]
[[Category:Oncology]]
[[Category:Oncology]]
[[Category:Up-To-Date]]​
[[Category:Up-To-Date]]
[[Category:Primary care]]
[[Category:Primary care]]
[[Category:Surgery]]
[[Category:Surgery]]

Revision as of 19:26, 17 May 2019

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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

Sporadic heritable retinoblastoma

References

  1. Du, W; Pogoriler, J (2006). "Retinoblastoma family genes". Oncogene. 25 (38): 5190–5200. doi:10.1038/sj.onc.1209651. ISSN 0950-9232.
  2. Singh, Arun (2007). Clinical ophthalmic oncology. Edinburgh: Elsevier Saunders. ISBN 978-1-4160-3167-3.
  3. Clark, Robin D.; Avishay, Stefanie G. (2015). "Retinoblastoma: Genetic Counseling and Testing": 77–88. doi:10.1007/978-3-662-43451-2_8.