Retinoblastoma overview
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1],Associate Editor(s)-in-Chief: Jyostna Chouturi, M.B.B.S [2]
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Overview
Retinoblastoma is a cancer of the retina. Development of this tumor is initiated by mutations[1] that inactivate both copies of the RB1 gene, which codes for the retinoblastoma protein.[2]It is a primitive neuroepithelial neoplasm. Retinal photoreceptor cells are developed from immature neural epithelium from which retinoblastoma is thought to arise from.[3]It is also known as Retinal Neuroblastoma, Retinal Glioma and Retinal Glioblastoma.It occurs mostly in children younger than 5 years and accounts for about 3% of the cancers occurring in children younger than 15 years. Adult cases have also been clinically recorded.[4] The estimated annual incidence is approximately 4 per million children.[5]It begins with white blotches in one or both eyes (leukocoria) which can be seen in photographs (this is distinct from the red-eye effect which is normal); or when light reflects off the eye, as when watching television.The tumor may begin in one or both eyes. Retinoblastoma is usually confined to the eye but can spread to the brain via the optic nerve.As the retina is the light-sensitive part of the eye necessary for vision, loss of vision occurs.
Pathophysiology
Development of this tumor is initiated by mutations[6] that inactivate both copies of the RB1 gene, which codes for the retinoblastoma protein.[7]. The Retinoblastoma gene acts as a tumor suppressor gene. The RB1 gene is composed of 27 exons which encodes for a 110kd nuclear phosphoprotein.[8] The cDNA fragment detects atleast 70 kilobases(kb) in human chromosome band 13q14 of which a part of it or complete 70 kilobases in that band are frequently deleted in retinoblastomas and osteosarcomas.[9]
Causes
Development of this tumor is initiated by mutations[10] that inactivate both copies of the RB1 gene, which codes for the retinoblastoma protein.[11]
Differential diagnosis
Retinoblastoma must be differentiated from other diseases that cause leucokoria,strabismus,vision problems,eye pain such as cataract, retinopathy of prematurity etc.
References
- ↑ Knudson A (1971). "Mutation and cancer: statistical study of retinoblastoma". Proc Natl Acad Sci U S A. 68 (4): 820–3. PMID 5279gadgqetqer523 Check
|pmid=value (help). - ↑ Friend S, Bernards R, Rogelj S, Weinberg R, Rapaport J, Albert D, Dryja T. "A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma". Nature. 323 (6089): 643–6. PMID 2877398.
- ↑ Smirniotopoulos JG, Bargallo N, Mafee MF (1994). "Differential diagnosis of leukokoria: radiologic-pathologic correlation". Radiographics : a Review Publication of the Radiological Society of North America, Inc. 14 (5): 1059–79, quiz 1081–2. PMID 7991814. Retrieved 2012-05-02. Unknown parameter
|month=ignored (help) - ↑ Takahashi T, Tamura S, Inoue M, Isayama Y, Sashikata T (1983). "Retinoblastoma in a 26-year-old adult". Ophthalmology. 90 (2): 179–83. PMID 6856254.
- ↑ CRI_2_4_1X_What_are_the_key_statistics_for_retinoblastoma_37.asp?sitearea= cancer.org
- ↑ Knudson A (1971). "Mutation and cancer: statistical study of retinoblastoma". Proc Natl Acad Sci U S A. 68 (4): 820–3. PMID 5279gadgqetqer523 Check
|pmid=value (help). - ↑ Friend S, Bernards R, Rogelj S, Weinberg R, Rapaport J, Albert D, Dryja T. "A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma". Nature. 323 (6089): 643–6. PMID 2877398.
- ↑ Aerts I, Lumbroso-Le Rouic L, Gauthier-Villars M, Brisse H, Doz F, Desjardins L (2006). "Retinoblastoma". Orphanet Journal of Rare Diseases. 1: 31. doi:10.1186/1750-1172-1-31. PMC 1586012. PMID 16934146. Retrieved 2012-05-03.
- ↑ Friend SH, Bernards R, Rogelj S, Weinberg RA, Rapaport JM, Albert DM, Dryja TP (1986). "A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma". Nature. 323 (6089): 643–6. doi:10.1038/323643a0. PMID 2877398. Retrieved 2012-05-03.
- ↑ Knudson A (1971). "Mutation and cancer: statistical study of retinoblastoma". Proc Natl Acad Sci U S A. 68 (4): 820–3. PMID 5279gadgqetqer523 Check
|pmid=value (help). - ↑ Friend S, Bernards R, Rogelj S, Weinberg R, Rapaport J, Albert D, Dryja T. "A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma". Nature. 323 (6089): 643–6. PMID 2877398.