Retinoblastoma risk factors: Difference between revisions
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**RB1 gene mutation | **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> | **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''' | '''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> 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> |
Revision as of 20:45, 14 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
- 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] 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.[3]
- 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.[4]
- There is evidence suggesting that the mutations of RB1 are more common during spermatogenesis than oogenesis.[5]
Environmental factors
- Epidemiologic data indicated that retinoblastoma has higher incidence in some geographic areas. For more information click here.
- Other factors which has been associated with increased risk of retinoblastoma development include:[6]
- Mother’s use of insect or garden sprays during pregnancy
- Diagnostic x-ray with direct fetal exposureand
- 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.
- ↑ 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.
- ↑ 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.