Retinoblastoma risk factors: Difference between revisions
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__NOTOC__ | __NOTOC__ | ||
{{CMG}}{{AE}}{{Simrat}} | |||
{{CMG}}; {{AE}} {{Simrat}} {{Sahar}} | |||
{{Retinoblastoma}} | {{Retinoblastoma}} | ||
==Overview== | ==Overview== | ||
[[Risk factors]] associated with the development of retinoblastoma are [[mutation]] in [[RB1 gene]], a positive [[family history]] of retinoblastoma, living in areas with high [[incidence rate]] of the [[disease]], [[HPV]] exposure and other [[Environmental factor|environmental factors]]. | |||
==Risk Factors== | |||
== | === '''Genetic Mutations''' === | ||
*Retinoblastoma has been associated with the following [[genetic disorders]]: | |||
**[[RB1]] [[gene mutation]] | |||
**[[Deletion]] of [[chromosome 13]] long arm of ([[13q deletion syndrome]])<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> | |||
**[[Fragile-X Syndrome|Fragile-X syndrome]] | |||
=== | === '''Family History''' === | ||
*Approximately 10% of [[patients]] with retinoblastoma have a previously established [[family history]] of the disease.<ref name="RichterVandezande2003">{{cite journal|last1=Richter|first1=Suzanne|last2=Vandezande|first2=Kirk|last3=Chen|first3=Ning|last4=Zhang|first4=Katherine|last5=Sutherland|first5=Joanne|last6=Anderson|first6=Julie|last7=Han|first7=Liping|last8=Panton|first8=Rachel|last9=Branco|first9=Patricia|last10=Gallie|first10=Brenda|title=Sensitive and Efficient Detection of RB1 Gene Mutations Enhances Care for Families with Retinoblastoma|journal=The American Journal of Human Genetics|volume=72|issue=2|year=2003|pages=253–269|issn=00029297|doi=10.1086/345651}}</ref> | |||
*The magnitude of risk among [[Offspring|offsprings]] of the proband depends upon the [[tumor]] presentation in the proband (unilateral or [[bilateral]]) and the relationship of the individual to the [[patient]] with retinoblastoma. | |||
*The table below provides the estimated risk percentage of developing retinoblastoma in individuals with a positive [[family history]] of retinoblastoma: | |||
{| border="3" | |||
|+ | |||
!style="background: #4479BA; width: 150px;" | {{fontcolor|#FFF| Relative of patient}} !!style="background: #4479BA; width: 150px;" | {{fontcolor|#FFF| Bilateral involvement (100%)}} !!style="background: #4479BA; width: 150px;" | {{fontcolor|#FFF| Unilateral involvement (15%)}} | |||
|- | |||
!style="padding: 5px 5px; background: #DCDCDC; |Offspring (infant) | |||
|style="padding: 5px 5px; background: #F5F5F5;" align="center" | 50 ||style="padding: 5px 5px; background: #F5F5F5;" align="center" | 7.5 | |||
|- | |||
!style="padding: 5px 5px; background: #DCDCDC; | Parent | |||
|style="padding: 5px 5px; background: #F5F5F5;" align="center" |5 | |||
|style="padding: 5px 5px; background: #F5F5F5;" align="center" |0.8 | |||
|- | |||
!style="padding: 5px 5px; background: #DCDCDC; | Sibling | |||
|style="padding: 5px 5px; background: #F5F5F5;" align="center" |2.5 | |||
|style="padding: 5px 5px; background: #F5F5F5;" align="center" |0.4 | |||
|- | |||
!style="padding: 5px 5px; background: #DCDCDC; | Niece/nephew | |||
|style="padding: 5px 5px; background: #F5F5F5;" align="center" |1.3 | |||
|style="padding: 5px 5px; background: #F5F5F5;" align="center" |0.2 | |||
|- | |||
!style="padding: 5px 5px; background: #DCDCDC; | Aunt/uncle | |||
|style="padding: 5px 5px; background: #F5F5F5;" align="center" |0.1 | |||
|style="padding: 5px 5px; background: #F5F5F5;" align="center" |0.007 | |||
|- | |||
!style="padding: 5px 5px; background: #DCDCDC; | First cousin | |||
|style="padding: 5px 5px; background: #F5F5F5;" align="center" |0.05 | |||
|style="padding: 5px 5px; background: #F5F5F5;" align="center" |0.007 | |||
|} | |||
{| | |||
! colspan="2" style="background:#DCDCDC;" align="center" + |The above table adopted from Ophthalmology journal <ref name="SkaletGombos2018">{{cite journal|last1=Skalet|first1=Alison H.|last2=Gombos|first2=Dan S.|last3=Gallie|first3=Brenda L.|last4=Kim|first4=Jonathan W.|last5=Shields|first5=Carol L.|last6=Marr|first6=Brian P.|last7=Plon|first7=Sharon E.|last8=Chévez-Barrios|first8=Patricia|title=Screening Children at Risk for Retinoblastoma|journal=Ophthalmology|volume=125|issue=3|year=2018|pages=453–458|issn=01616420|doi=10.1016/j.ophtha.2017.09.001}}</ref> | |||
|- | |||
|} | |||
=== | === '''HPV Exposure''' === | ||
There is evidence suggesting that the [[mutations]] of ''RB1'' are more common during [[spermatogenesis]] than [[oogenesis]].<ref name="DryjaMukai1989">{{cite journal|last1=Dryja|first1=Thaddeus P.|last2=Mukai|first2=Shizuo|last3=Petersen|first3=Robert|last4=Rapaport|first4=Joyce M.|last5=Walton|first5=David|last6=Yandell|first6=David W.|title=Parental origin of mutations of the retinoblastoma gene|journal=Nature|volume=339|issue=6225|year=1989|pages=556–558|issn=0028-0836|doi=10.1038/339556a0}}</ref> | *The presence of [[HPV]] sequences in retinoblastoma [[tumor]] [[Tissue (biology)|tissue]] may play a role in the development of sporadic retinoblastoma.<ref name="pmid11051250">{{cite journal| author=Orjuela M, Castaneda VP, Ridaura C, Lecona E, Leal C, Abramson DH et al.| title=Presence of human papilloma virus in tumor tissue from children with retinoblastoma: an alternative mechanism for tumor development. | journal=Clin Cancer Res | year= 2000 | volume= 6 | issue= 10 | pages= 4010-6 | pmid=11051250 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11051250 }} </ref> | ||
*There is evidence suggesting that the [[mutations]] of ''[[RB1]]'' are more common during [[spermatogenesis]] than [[oogenesis]].<ref name="DryjaMukai1989">{{cite journal|last1=Dryja|first1=Thaddeus P.|last2=Mukai|first2=Shizuo|last3=Petersen|first3=Robert|last4=Rapaport|first4=Joyce M.|last5=Walton|first5=David|last6=Yandell|first6=David W.|title=Parental origin of mutations of the retinoblastoma gene|journal=Nature|volume=339|issue=6225|year=1989|pages=556–558|issn=0028-0836|doi=10.1038/339556a0}}</ref> | |||
=== '''Environmental Factors''' === | |||
*[[Epidemiological]] data indicates that retinoblastoma has higher [[incidence]] in some geographic areas. For more information [[Retinoblastoma epidemiology and demographics|click here]]. | |||
*Other factors associated with an increased risk of retinoblastoma development include:<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> | |||
**Mother’s use of insect or garden sprays during [[pregnancy]] | |||
**[[Diagnostic]] [[x-ray]] with direct [[Fetus|fetal]] exposure | |||
**Father’s employment as a welder, machinist, or related metal worker | |||
==References== | ==References== | ||
{{reflist|2}} | {{reflist|2}} | ||
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[[Category: | [[Category:Medicine]] | ||
[[Category: | [[Category:Oncology]] | ||
[[Category: | [[Category:Up-To-Date]] | ||
[[Category:Surgery]] |
Latest revision as of 23:59, 29 July 2020
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]
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Overview
Risk factors associated with the development of retinoblastoma are mutation in RB1 gene, a positive family history of retinoblastoma, living in areas with high incidence rate of the disease, HPV exposure and other environmental factors.
Risk Factors
Genetic Mutations
- Retinoblastoma has been associated with the following genetic disorders:
- RB1 gene mutation
- Deletion of chromosome 13 long arm of (13q deletion syndrome)[1]
- Fragile-X syndrome
Family History
- Approximately 10% of patients with retinoblastoma have a previously established family history of the disease.[2]
- The magnitude of risk among offsprings of the proband depends upon the tumor presentation in the proband (unilateral or bilateral) and the relationship of the individual to the patient with retinoblastoma.
- The table below provides the estimated risk percentage of developing retinoblastoma in individuals with a positive family history of retinoblastoma:
Relative of patient | Bilateral involvement (100%) | Unilateral involvement (15%) |
---|---|---|
Offspring (infant) | 50 | 7.5 |
Parent | 5 | 0.8 |
Sibling | 2.5 | 0.4 |
Niece/nephew | 1.3 | 0.2 |
Aunt/uncle | 0.1 | 0.007 |
First cousin | 0.05 | 0.007 |
The above table adopted from Ophthalmology journal [3] |
---|
HPV Exposure
- The presence of HPV sequences in retinoblastoma tumor tissue may play a role in the development of sporadic retinoblastoma.[4]
- There is evidence suggesting that the mutations of RB1 are more common during spermatogenesis than oogenesis.[5]
Environmental Factors
- Epidemiological data indicates that retinoblastoma has higher incidence in some geographic areas. For more information click here.
- Other factors associated with an increased risk of retinoblastoma development include:[6]
- Mother’s use of insect or garden sprays during pregnancy
- Diagnostic x-ray with direct fetal exposure
- Father’s employment as a welder, machinist, or related metal worker
References
- ↑ Clark, Robin D.; Avishay, Stefanie G. (2015). "Retinoblastoma: Genetic Counseling and Testing": 77–88. doi:10.1007/978-3-662-43451-2_8.
- ↑ Richter, Suzanne; Vandezande, Kirk; Chen, Ning; Zhang, Katherine; Sutherland, Joanne; Anderson, Julie; Han, Liping; Panton, Rachel; Branco, Patricia; Gallie, Brenda (2003). "Sensitive and Efficient Detection of RB1 Gene Mutations Enhances Care for Families with Retinoblastoma". The American Journal of Human Genetics. 72 (2): 253–269. doi:10.1086/345651. ISSN 0002-9297.
- ↑ Skalet, Alison H.; Gombos, Dan S.; Gallie, Brenda L.; Kim, Jonathan W.; Shields, Carol L.; Marr, Brian P.; Plon, Sharon E.; Chévez-Barrios, Patricia (2018). "Screening Children at Risk for Retinoblastoma". Ophthalmology. 125 (3): 453–458. doi:10.1016/j.ophtha.2017.09.001. ISSN 0161-6420.
- ↑ Orjuela M, Castaneda VP, Ridaura C, Lecona E, Leal C, Abramson DH; et al. (2000). "Presence of human papilloma virus in tumor tissue from children with retinoblastoma: an alternative mechanism for tumor development". Clin Cancer Res. 6 (10): 4010–6. PMID 11051250.
- ↑ Dryja, Thaddeus P.; Mukai, Shizuo; Petersen, Robert; Rapaport, Joyce M.; Walton, David; Yandell, David W. (1989). "Parental origin of mutations of the retinoblastoma gene". Nature. 339 (6225): 556–558. doi:10.1038/339556a0. ISSN 0028-0836.
- ↑ Singh, Arun (2007). Clinical ophthalmic oncology. Edinburgh: Elsevier Saunders. ISBN 978-1-4160-3167-3.