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]] | ||
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[[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
- In children with the heritable genetic form of retinoblastoma there is a mutation on chromosome 13, called the RB1 gene.[1]
- Somatic amplification of the MYCN oncogene is responsible for some cases of non-hereditary, early-onset, aggressive, 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 the conception. For this reason, preconception exposure to mutagens is hypothesized to be the potential risk factors.[2]
- 13q deletion syndrome may also cause retinoblastoma. However, the tumor tends to occur at a later age and unilaterally.[3]
- For more information click here.
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.