Retinoblastoma risk factors: Difference between revisions

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{{Retinoblastoma}}
{{Retinoblastoma}}
==Overview==
==Overview==
Common risk factors in the development of retinoblastoma are advanced paternal age, positive [[family history]], and [[viral]] exposure.<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><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>
[[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]].
<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>
==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]]


==Common Risk Factors==
=== '''Family History''' ===
===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>
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> There is 50 percent risk of passing the [[mutation]] on to their offspring in patients with bilateral retinoblastoma, unilateral retinoblastoma with a [[family history]], or unilateral retinoblastoma with a proven ''RB1'' somatic [[mutation]]. The risk of retinoblastoma may also be increased among siblings of a patient with retinoblastoma as one parent  may have somatic [[mosaicism]] for the ''RB1'' deletion or may be a silent carrier of ''RB1'' [[mutation]].<ref name="pmid19280657">{{cite journal| author=Rushlow D, Piovesan B, Zhang K, Prigoda-Lee NL, Marchong MN, Clark RD et al.| title=Detection of mosaic RB1 mutations in families with retinoblastoma. | journal=Hum Mutat | year= 2009 | volume= 30 | issue= 5 | pages= 842-51 | pmid=19280657 | doi=10.1002/humu.20940 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19280657  }} </ref> The magnitude of risk among offspring of the proband depends upon the [[tumor]] presentation in the proband (ie, unilateral or bilateral; unifocal or multifocal). The magnitude of increased risk among siblings of the proband depends upon the genetic status of the parents and the proband.  
*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.
===Viral exposure===
*The table below provides the estimated risk percentage of developing retinoblastoma in individuals with a positive [[family history]] of retinoblastoma:
The presence of [[HPV]] sequences in retinoblastoma [[tumor]] 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>
{| 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>
|-
|}


===Advanced paternal age===
=== '''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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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

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

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

  1. ↑ Clark, Robin D.; Avishay, Stefanie G. (2015). "Retinoblastoma: Genetic Counseling and Testing": 77–88. doi:10.1007/978-3-662-43451-2_8.
  2. ↑ 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.
  3. ↑ 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.
  4. ↑ 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.
  5. ↑ 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.
  6. ↑ Singh, Arun (2007). Clinical ophthalmic oncology. Edinburgh: Elsevier Saunders. ISBN 978-1-4160-3167-3.

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