Retinoblastoma causes: Difference between revisions
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{{Retinoblastoma}} | {{Retinoblastoma}} | ||
==Overview== | ==Overview== | ||
Retinoblastoma is caused by a mutation in the ''RB1'' gene. | Retinoblastoma is caused by a mutation in the ''RB1'' gene.<ref name="radio"> Retinoblastoma. Radiopedia(2015) http://radiopaedia.org/articles/retinoblastoma</ref> | ||
==Causes== | ==Causes== | ||
*In children with the heritable genetic form of retinoblastoma there is a mutation on chromosome 13, called the ''RB1'' gene. The genetic codes found in chromosomes control the way in which cells grow and develop within the body.<ref name="DuPogoriler2006">{{cite journal|last1=Du|first1=W|last2=Pogoriler|first2=J|title=Retinoblastoma family genes|journal=Oncogene|volume=25|issue=38|year=2006|pages=5190–5200|issn=0950-9232|doi=10.1038/sj.onc.1209651}}</ref> | *In children with the heritable genetic form of retinoblastoma there is a mutation on chromosome 13, called the ''RB1'' gene. The genetic codes found in chromosomes control the way in which cells grow and develop within the body.<ref name="DuPogoriler2006">{{cite journal|last1=Du|first1=W|last2=Pogoriler|first2=J|title=Retinoblastoma family genes|journal=Oncogene|volume=25|issue=38|year=2006|pages=5190–5200|issn=0950-9232|doi=10.1038/sj.onc.1209651}}</ref> If a portion of the code is missing or altered (mutation) a cancer may develop. The defective RB1 gene can be inherited from either parent; in some children, however, the mutation occurs in the early stages of fetal development. Inheritance is autosomal dominant with 90% penetrance.<ref name="radio"> Retinoblastoma. Radiopedia(2015) http://radiopaedia.org/articles/retinoblastoma</ref> | ||
If a portion of the code is missing or altered (mutation) a cancer may develop. The defective RB1 gene can be inherited from either parent; in some children, however, the mutation occurs in the early stages of fetal development. Inheritance is autosomal dominant with 90% penetrance. | |||
*The development of retinoblastoma can be explained by the two-hit model. According to the two-hit model, two events are necessary for the retinal cell or cells to develop into tumors. The first mutational event can be inherited (germline or constitutional) and would then be present in all cells in the body. The second “hit” results in the loss of the remaining normal allele (gene) and occurs within a particular retinal cell. In the sporadic, nonheritable form of retinoblastoma, both mutational events occur within a single retinal cell after fertilization (somatic events), resulting in unilateral retinoblastoma. | *The development of retinoblastoma can be explained by the two-hit model. According to the two-hit model, two events are necessary for the retinal cell or cells to develop into tumors. The first mutational event can be inherited (germline or constitutional) and would then be present in all cells in the body. The second “hit” results in the loss of the remaining normal allele (gene) and occurs within a particular retinal cell. In the sporadic, nonheritable form of retinoblastoma, both mutational events occur within a single retinal cell after fertilization (somatic events), resulting in unilateral retinoblastoma. | ||
Revision as of 20:49, 10 October 2015
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
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Overview
Retinoblastoma is caused by a mutation in the RB1 gene.[1]
Causes
- In children with the heritable genetic form of retinoblastoma there is a mutation on chromosome 13, called the RB1 gene. The genetic codes found in chromosomes control the way in which cells grow and develop within the body.[2] If a portion of the code is missing or altered (mutation) a cancer may develop. The defective RB1 gene can be inherited from either parent; in some children, however, the mutation occurs in the early stages of fetal development. Inheritance is autosomal dominant with 90% penetrance.[1]
- The development of retinoblastoma can be explained by the two-hit model. According to the two-hit model, two events are necessary for the retinal cell or cells to develop into tumors. The first mutational event can be inherited (germline or constitutional) and would then be present in all cells in the body. The second “hit” results in the loss of the remaining normal allele (gene) and occurs within a particular retinal cell. In the sporadic, nonheritable form of retinoblastoma, both mutational events occur within a single retinal cell after fertilization (somatic events), resulting in unilateral retinoblastoma.
- Somatic amplification of the MYCN oncogene is responsible for some cases of non-hereditary, early-onset, aggressive, unilateral retinoblastoma.
References
- ↑ 1.0 1.1 Retinoblastoma. Radiopedia(2015) http://radiopaedia.org/articles/retinoblastoma
- ↑ Du, W; Pogoriler, J (2006). "Retinoblastoma family genes". Oncogene. 25 (38): 5190–5200. doi:10.1038/sj.onc.1209651. ISSN 0950-9232.