Retinoblastoma screening: Difference between revisions
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Revision as of 17:48, 15 May 2019
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Retinoblastoma Microchapters |
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Diagnosis |
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Treatment |
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Case Studies |
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Retinoblastoma screening On the Web |
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American Roentgen Ray Society Images of Retinoblastoma screening |
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Risk calculators and risk factors for Retinoblastoma screening |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Sahar Memar Montazerin, M.D.[2] Simrat Sarai, M.D. [3]
Overview
Screening
- Children with a family history of retinoblastoma are at increased risk of developing retinoblastoma and require screening plan for the early diagnosis of the tumor.[1]
- To schedule the screening plan, first, the risk of tumor development must be determined using the infant relationship to the family member with retinoblastoma.
- The table below is an estimate of patients risk for the development of retinoblastoma depending on the relativity of patient to the affected relatives.
- Risk of retinoblastoma development in the general population has been estimated at 0.007%.
| Relative of patient | Bilateral involvement (100%) | Unilateral involvement (15%) |
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| 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 [2] |
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Next step in assessing the risk of these children is to estimate the approximate relative risk of retinoblatoma development according to the percentage mentioned in the aforementioned table.
- Relatives are categorized into three categories:
- High risk: those with risk percentage > 7.5%
- Intermediate risk: those with risk percentage between and 1% and 7.5% (including 7.5%).
- Low risk: those with risk percentage < 1%.
- American Association of Ophthalmic Oncologists and Pathologists (AAOOP) guideline recommends scheduled eye examination for the screening of children at higher risk of retinoblastoma. [2]
- This society recommends screening from birth up to 7 years of age.
- No further examination is required after this age except for those who are known carriers of the RB1 gene mutation.
- For those who carries the RB1 gene mutation, screening should be continued indefinitely after the age of 7 years annually or every 2 years.
The following table is the recommended eye examination schedule for unaffected children of families with retinoblastoma depending on their age and risk percentage of tumor development.
| Risk category or Age | High risk | Intermediate risk | Low risk |
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Birth to 8 weeks |
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>8-12 weeks |
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>3 to 12 months |
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>12 to 24 months |
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>24 to 36 months |
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>36 to 48 months |
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>48 to 60 months |
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5 to 7 years |
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| The above table is the recommended management guideline for childhood screening of families with affected individuals and adopted from Ophthalmology journal[2] |
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- The schedule presented above is general guideline for at-risk child when no lesions of concern have been noted. Some children may require more frequent examinations.
The AAOOP guideline also suggests a single dilated fundus examination to evaluate for asymptomatic spontaneously regressed retinoblastoma or retinoma in all first-degree relatives of a patient with retinoblastoma, including older siblings if the RB1 genetic analysis of the relatives is not done.
| Genetic testing for child with Retinoblastoma | |||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Not available | Blood:RB1 mutation(+) (germline mutation) | Blood:RB1 mutation(-) Tumor:RB1 mutation(+) | Blood:RB1 mutation(-) tumor:RB1 mutation(-) | Blood:RB1 mutation(-) Tumor:not available | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Oohthalmic screnning for all the relatives with greater than population risk | Assessment of relatives for familial retinoblastoma | Ophthalmic screening and genetic analysis not required for 1-degree relatives | No need for genetic analysis of 1-degree relatives | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| Relatives with RB1 mutation | Relatives w/o RB1 mutation | Ophthlamic screening for future offspring unless negative for parent's mutation | Future offspring of affected child require ophthalmic screening | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ophthalmic screening for children as high risk | Ophthalmic screening not required | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
| The above table is the recommended genetic analysis guidline for families with affected individuals and adopted from Ophthalmology journal[2] |
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References
- ↑ Dhar, Shweta U. (2011). "Outcomes of Integrating Genetics in Management of Patients With Retinoblastoma". Archives of Ophthalmology. 129 (11): 1428. doi:10.1001/archophthalmol.2011.292. ISSN 0003-9950.
- ↑ 2.0 2.1 2.2 2.3 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.