Retinoblastoma screening
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Retinoblastoma Microchapters |
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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: Simrat Sarai, M.D. [2]
Overview
According to the United States Preventive Services Task Force, screening for retinoblastoma is not recommended in the general population. However, children with an increased risk of retinoblastoma such as those with a known 13q deletion or family history should be evaluated by an ophthalmologist shortly after birth. Dilated fundus examinations are recommended in siblings and offspring of patients with retinoblastoma.[1]
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.[2]
- 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 table above adapted from Ophthalmology journal [3] |
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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 percentge mentioned in the afromentioned 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%.
The following table is the recommended management guideline for childhood screening of families with retinoblastoma.
| 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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There is no widely accepted screening protocol of retinoblastoma for the general population. However, children at increased risk of retinoblastoma based on known 13q deletion or family history should be evaluated by an ophthalmologist shortly after birth.
- Screening should then be conducted every 1 to two months during the first two years of life. After that screening should be conducted every three to four months until the child is three to four years of age, and every six months until five to six years of age unless genetic testing of the child reveals that he or she does not have the germline mutation identified in the affected relative, in which case screening examinations are not necessary. Retinoblastoma surveillance examinations are usually performed with the patient under general anesthesia to permit complete detailed examination of the ocular fundus.[4].
- Although it is not clear whether early diagnosis can impact survival, screening with MRI has been recommended as often as every 6 months for 5 years for those suspected of having heritable disease or those with unilateral disease and a positive family history. CT scans are generally avoided for routine screening in these children because of the perceived risk of exposure to ionizing radiation. At the time of diagnosis, patients who are asymptomatic of an intracranial tumor have a better outcome than do patients who are symptomatic.
- The American Academy of Pediatrics recommends red reflex testing infants, neonates, and children before discharge from the neonatal nursery and at all subsequent routine health clinic visits. Abnormal red reflex requires immediate referral to an ophthalmologist. As some children with retinoblastoma present with strabismus, all children with strabismus should be evaluated through a dilated eye exam for retinoblastoma. In all offsprings and siblings of patients with retinoblastoma, screening dilated fundus examinations are recommended.
- Proposed fundus screening guidelines, based on the absolute risk, depending on the clinical context or genetic testing.[1]
- As patients with heritable retinoblastoma are at risk for trilateral retinoblastoma, they may benefit from routine MRI screening during the first five years of life.[5]
| Clinical context or genetic testing | Risk to carry germinal RB1 mutation | Overall RB risk for the child[a] (%) | Fundus screening protocol recommendations |
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Abbreviations: RB, retinoblastoma; RB1, retinoblastoma gene.
[a]-The risk is computed assuming a 90% penetrance of the disease and a 50% risk to inherit the mutated allele from a parent. For unaffected parents of a bilaterally affected child, the risk to carry germinal mutation for each parent is 5%.
[b]-Or unilateral retinoblastoma with multifocal tumors.
References
- ↑ 1.0 1.1 Rothschild, P-R; Lévy, D; Savignoni, A; Lumbroso-Le Rouic, L; Aerts, I; Gauthier-Villars, M; Esteve, M; Bours, D; Desjardins, L; Doz, F; Lévy-Gabriel, C (2011). "Familial retinoblastoma: fundus screening schedule impact and guideline proposal. A retrospective study". Eye. 25 (12): 1555–1561. doi:10.1038/eye.2011.198. ISSN 0950-222X.
- ↑ 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.
- ↑ 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.
- ↑ Pizzo, Philip (2011). Principles and practice of pediatric oncology. Philadelphia, PA: Wolters Kluwer/Lippincott Williams & Wilkins Health. ISBN 160547682X.
- ↑ Shields CL, Shields JA (2004). "Diagnosis and management of retinoblastoma". Cancer Control. 11 (5): 317–27. PMID 15377991.