Retinoblastoma risk factors: Difference between revisions

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**[[Fragile-X Syndrome|Fragile x syndrome]]
**[[Fragile-X Syndrome|Fragile x syndrome]]
'''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>  
*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 of the proband depends upon the [[tumor]] presentation in the proband (ie, unilateral or bilateral; unifocal or multifocal).
*The magnitude of risk among offspring of the proband depends upon the [[tumor]] presentation in the proband (ie, unilateral or bilateral) and the relationship of the individual to the patient with retinoblastoma.
*The table below provides the estimated risk of developing retinoblastoma in individuals with a positive family history of retinoblastoma.
{| border="3"
|+ Risk of carrying [[mutated]] [[gene]] in the relatives of a patient with [[retinoblastoma]] (Patient)(%)
! 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
|}
{|
! 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 virus 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>
Line 23: Line 55:
**[[Diagnostic]] [[x-ray]] with direct fetal exposure
**[[Diagnostic]] [[x-ray]] with direct fetal exposure
**Father’s employment as a welder, machinist, or related metal worker
**Father’s employment as a welder, machinist, or related metal worker
==References==
==References==
{{reflist|2}}
{{reflist|2}}

Revision as of 19:39, 17 May 2019


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 positive family history, living in areas with high incidence rate of the disease.

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 offspring of the proband depends upon the tumor presentation in the proband (ie, unilateral or bilateral) and the relationship of the individual to the patient with retinoblastoma.
  • The table below provides the estimated risk of developing retinoblastoma in individuals with a positive family history of retinoblastoma.
Risk of carrying mutated gene in the relatives of a patient with retinoblastoma (Patient)(%)
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 virus exposure

Environmental factors

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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