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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><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>
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><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>


==Common Risk Factors==
==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> In patients with bilateral retinoblastoma, unilateral retinoblastoma with a [[family history]], or unilateral retinoblastoma with a proven ''RB1'' somatic [[mutation]] there is 50 percent risk of passing the mutation on to their offspring. 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.
*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> In patients with bilateral retinoblastoma, unilateral retinoblastoma with a [[family history]], or unilateral retinoblastoma with a proven ''RB1'' somatic [[mutation]] there is 50 percent risk of passing the mutation on to their offspring. 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).
===Viral exposure===
'''HPV virus exposure'''
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>
*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>
 
*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>
===Advanced paternal age===
'''Environmental factors'''
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>
*Epidemiologic data indicated that retinoblastoma has higher incidence in some geographic areas.
 
*The table below provides regions with highest incidence rate of retinoblastoma.
{| border="3"
|+ Annual incidence rate of retinoblastoma per 100,000 children aged 0-4 years old
! Country !! Incidence
|-
! Mali
| 4.25 |
|-
! Uganda
|2.4
|-
! Zimbabwe
|2.33
|-
! Hawaii
|2.25
|-
! India
|1.96
|-
! Vietnam
|1.89
|-
!Singapore
|1.88
|-
!New Zealand
|(1.78-1.86)
|-
!Spain
|1.78
|-
!Philippines
|1.74
|-
!Colombia
|1.71
|-
!Ecuador
|1.66
|-
!Nigeria
|1.61
|-
!Costa Rica
|1.57
|-
!Peru
|1.55
|}
==References==
==References==
{{reflist|2}}
{{reflist|2}}
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Revision as of 19:45, 6 May 2019

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Simrat Sarai, M.D. [2]

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Overview

Common risk factors in the development of retinoblastoma are advanced paternal age, positive family history, and viral exposure.[1][2][3]

Risk Factors

Family history

  • Approximately 10% of patients with retinoblastoma have a previously established family history of the disease.[1] In patients with bilateral retinoblastoma, unilateral retinoblastoma with a family history, or unilateral retinoblastoma with a proven RB1 somatic mutation there is 50 percent risk of passing the mutation on to their offspring. 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.[4]
  • The magnitude of risk among offspring of the proband depends upon the tumor presentation in the proband (ie, unilateral or bilateral; unifocal or multifocal).

HPV virus exposure

  • The presence of HPV sequences in retinoblastoma tumor tissue may play a role in the development of sporadic retinoblastoma.[2]
  • There is evidence suggesting that the mutations of RB1 are more common during spermatogenesis than oogenesis.[3]

Environmental factors

  • Epidemiologic data indicated that retinoblastoma has higher incidence in some geographic areas.
  • The table below provides regions with highest incidence rate of retinoblastoma.
Annual incidence rate of retinoblastoma per 100,000 children aged 0-4 years old
Country Incidence
Mali
Uganda 2.4
Zimbabwe 2.33
Hawaii 2.25
India 1.96
Vietnam 1.89
Singapore 1.88
New Zealand (1.78-1.86)
Spain 1.78
Philippines 1.74
Colombia 1.71
Ecuador 1.66
Nigeria 1.61
Costa Rica 1.57
Peru 1.55

References

  1. ↑ 1.0 1.1 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.
  2. ↑ 2.0 2.1 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.
  3. ↑ 3.0 3.1 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.
  4. ↑ Rushlow D, Piovesan B, Zhang K, Prigoda-Lee NL, Marchong MN, Clark RD; et al. (2009). "Detection of mosaic RB1 mutations in families with retinoblastoma". Hum Mutat. 30 (5): 842–51. doi:10.1002/humu.20940. PMID 19280657.
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