Retinoblastoma


Retinoblastoma

DiseaseDisorder infobox
Name = PAGENAME
ICD10 = ICD10|C|69|2|c|69
ICD9 = ICD9|190.5
ICDO = ICDO|9510|3



Caption = Leukocoria of right eye indicating presence of tumor
OMIM = 180200
MedlinePlus = 001030
eMedicineSubj = oph
eMedicineTopic = 346
DiseasesDB = 11434
MeshID = D012175
Retinoblastoma is a cancer of the retina. Development of this tumor is initiated by mutations [cite journal |author=Knudson A |title=Mutation and cancer: statistical study of retinoblastoma |journal=Proc Natl Acad Sci U S A |volume=68 |issue=4 |pages=820–3 |year=1971 |pmid=5279523 |doi=10.1073/pnas.68.4.820] that inactivate both copies of the "RB1" gene, which codes for the retinoblastoma protein. [cite journal |author=Friend S, Bernards R, Rogelj S, Weinberg R, Rapaport J, Albert D, Dryja T |title=A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma |journal=Nature |volume=323 |issue=6089 |pages=643–6 |year= 1986|pmid=2877398 |doi=10.1038/323643a0]

Treatment

Until recently the only treatment was to remove the affected eyeball before the cancer spread. Chemotherapy is the treatment of choice for most unilateral cases. However, with locally advanced disease, external beam radiation may be needed, and if both eyes are involved, enucleation may be the only option. Affected children in developing countries present with advanced features and usually die of metastatic spread. In its initial stages, retinoblastoma is very similar to Coats' disease, a non-cancerous retina disease. Coats' disease should be ruled out before enucleation is done. A mis-diagnosis of retinoblastoma accounts for the greatest number of Coats' disease eyes being enucleated.

Many children with bilateral retinoblastoma can be treated with a preservation attempt. Tumor chemoreduction with carboplatin and other drugs may reduce the tumor volume making them amenable to local therapies [cite journal |author=Dunkel IJ, Lee TC, Shi W, Beaverson KL, Novetsky D, Lyden D, Finlay JL, McCormick B, Abramson DH. |title=A phase II trial of carboplatin for intraocular retinoblastoma |journal=Pediatr Blood Cancer. |pmid=17301956 |doi=10.1002/pbc.21163 |year=2007 |volume=49 |pages=643 ]

Local therapies include-

* Laser therapy (Uses infrared laser light to precisely destroy the blood vessels surrounding a tumor.)
* Cryotherapy (use of a cold gas which is injected into the affected part of the retina to shrink the tumor.)
* Thermotherapy (A relatively new technique used mainly in new testing. It uses the principle that if heat is applied to the affected area, a tumor will sustain more damage than healthy cells because healthy cells can cool themselves better using healthy surrounding blood vessels. If this technique is not immediately successful it may increase the efficacy of other treatments such as chemotherapy and focused radiation plaques.)
* Radiotherapy (Generally used as a last resort, radiotherapy was previously the treatment of choice before the above mentioned treatments were developed. Radiotherapy destroys cancerous growths using gamma radiation or x-ray radiation but it carries with it many drawbacks, including:-
** Possibility of secondary cancerous growths which present themselves months or years later.
** Destruction of healthy cells in the area surrounding the treated tumor.
** Bone deformation due to the destruction of the growth plates mainly in the area of the temple.)

It is important that children with retinoblastoma are treated in specialist centers.It is considered to be one of the most common inherited cancer syndromes.

Brachytherapy with beta-emitting eye applicators have also been a successful major treatment. BEBIG (GmbH-Berlin-Germany) produces various kinds of ruthenium ophthalmic applicators for treating retinoblastoma.

Causes

In October 2007, researchers identified the specific cell that causes retinoblastoma. [cite web |url=http://www.sciencedaily.com/releases/2007/10/071018123509.htm |title=Specific Cell That Causes Eye Cancer Identified, Disproving Long-held Theory |date=2007-11-08 |format= |work=Science Daily|accessdate=2008-09-27] [cite journal|last=Ajioka |first=Itsuki |coauthors=Rodrigo A.P. Martins, Ildar T. Bayazitov, Stacy Donovan, Dianna A. Johnson, Sharon Frase, Samantha Cicero, Kelli Boyd, Stanislav S. Zakharenko, and Michael A. Dyer |date=October 19, 2007| title=Differentiated Horizontal Interneurons Clonally Expand to Form Metastatic Retinoblastoma in Mice| journal=Cell| volume=131|issue=2|pages=378 - 390
pmid=17956737 |pmc=PMC2203617 |doi= 10.1016/j.cell.2007.09.036 |url=http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=2203617|accessdate=2008-09-27
]

ee also

*Eye cancer
*Eye examination


=Additional

References

External links

* [http://www.chect.org.uk The Childhood Eye Cancer Trust] A charity for families and individuals affected by retinoblastoma. We offer support and information, fund research and raise public awareness of this rare cancer.
* [http://www.cancer.gov/cancer_information/cancer_type/retinoblastoma/ Retinoblastoma] at National Cancer Institute
* [http://www.ukoptometry.co.uk/uncategorized/2008/01/22/sophie%e2%80%99s-retinoblastoma Sophie's Retinoblastoma ]
* [http://www.retinoblastoma.net/ Retinoblastoma International]
*GeneTests|retinoblastoma
* [http://rb1-lsdb.d-lohmann.de/ Retinoblastoma Genetics]
* [http://bjo.bmj.com/cgi/content/full/84/10/1170/ At What Age Could Screening Be Stopped]
* [http://archopht.ama-assn.org/cgi/content/abstract/122/9/1324/ Visual Fields in Retinoblastoma Survivors]
* [http://www.mskcc.org/mskcc/html/62459.cfm Building on a Legacy of Innovation and Collaboration: Better Treatments for Retinoblastoma]
*cite journal |author=Abramson D, Frank C |title=Second nonocular tumors in survivors of bilateral retinoblastoma: a possible age effect on radiation-related risk |journal=Ophthalmology |volume=105 |issue=4 |pages=573–9; discussion 579–80 |year=1998 |url=http://www.ncbi.nlm.nih.gov/pubmed/9544627 |pmid=9544627 |doi=10.1016/S0161-6420(98)94006-4
* [http://webeye.ophth.uiowa.edu/eyeforum/atlassearch1.htm Photographs of patients with far-advanced clinical manifestations of retinoblastoma. Type retinoblastoma into the Diagnosis space and click on the Run Query space to view the photographs contained in the University of Iowa Eye Atlas]
* [http://retinoblastomafocus.com Retinoblastoma Focus - Positive Resources for Dealing with Retinoblastoma ]
* [http://geelen.com.au/feature-articles/kids/ Stories about children who have lost an eye]
* [http://janetshaw.com/ Janet Shaw, Retinoblastoma Survivor and Medallist at Athens Paralympic Games]


Wikimedia Foundation. 2010.

Look at other dictionaries:

  • Retinoblastoma — Saltar a navegación, búsqueda Retinoblastoma Clasificación y recursos externos Aviso médico …   Wikipedia Español

  • retinoblastoma — m. oftalm. Tumor maligno que se desarrolla en las células retinianas. Generalmente es bilateral y hereditario de transmisión autosómica dominante. Suele descubrirse en los niños a una edad comprendida entre los 2 y los 4 años por la aparición de… …   Diccionario médico

  • Retinoblastoma — es un cáncer de la retina. Es causado por una mutación en la proteína Rb 1. Se presenta en mayor parte en niños pequeños y representa el 3% de los cánceres padecidos por menores de quince años. La incidencia anual estimada es de aproximadamente 4 …   Enciclopedia Universal

  • retinoblastoma — retinoblastoma. См. ретинобластома. (Источник: «Англо русский толковый словарь генетических терминов». Арефьев В.А., Лисовенко Л.А., Москва: Изд во ВНИРО, 1995 г.) …   Молекулярная биология и генетика. Толковый словарь.

  • retinoblastoma — [ret΄ n ō blas tō′mə] n. pl. retinoblastomas, retinoblastomata [ret΄ n ō blas tō′mə tə] a rare, often inherited, malignant tumor that forms in the retina, usually of a young child …   English World dictionary

  • Retinoblastoma — A malignant eye tumor caused by the loss of a pair of tumor suppressor genes. An inherited form of retinoblastoma (it typically appears at birth, leads to multiple tumors and affects both eyes) is due to a transmissible (germline) mutation… …   Medical dictionary

  • retinoblastoma — Malignant tumour of the retina, usually arising in the inner nuclear layer of the neural retina. Retinoblastoma is unusual in being caused by an autosomal dominant mutation in some cases (about 6%), in which case it may be bilateral. The gene… …   Dictionary of molecular biology

  • retinoblastoma — Eng. Retinoblastoma Tumor primario, congénito y maligno constituido por células de la retina neurosensoriales precursoras de los fotorreceptores …   Diccionario de oftalmología

  • retinoblastoma — {{#}}{{LM R34122}}{{〓}} {{[}}retinoblastoma{{]}} ‹re·ti·no·blas·to·ma› {{《}}▍ s.m.{{》}} Tumor maligno que se desarrolla en la retina …   Diccionario de uso del español actual con sinónimos y antónimos

  • retinoblastoma — Cancer that forms in the tissues of the retina (the light sensitive layers of nerve tissue at the back of the eye). Retinoblastoma usually occurs in children younger than 5 years. It may be hereditary or nonhereditary (sporadic) …   English dictionary of cancer terms


Share the article and excerpts

Direct link
Do a right-click on the link above
and select “Copy Link”

We are using cookies for the best presentation of our site. Continuing to use this site, you agree with this.