Retinoblastoma screening: Difference between revisions

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{{Retinoblastoma}}
{{Retinoblastoma}}
{{CMG}}{{AE}}{{Simrat}}
{{CMG}}; {{AE}} {{Sahar}} {{Simrat}}
==Overview==
==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.<ref name="RothschildLévy2011">{{cite journal|last1=Rothschild|first1=P-R|last2=Lévy|first2=D|last3=Savignoni|first3=A|last4=Lumbroso-Le Rouic|first4=L|last5=Aerts|first5=I|last6=Gauthier-Villars|first6=M|last7=Esteve|first7=M|last8=Bours|first8=D|last9=Desjardins|first9=L|last10=Doz|first10=F|last11=Lévy-Gabriel|first11=C|title=Familial retinoblastoma: fundus screening schedule impact and guideline proposal. A retrospective study|journal=Eye|volume=25|issue=12|year=2011|pages=1555–1561|issn=0950-222X|doi=10.1038/eye.2011.198}}</ref>
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.<ref name="RothschildLévy2011">{{cite journal|last1=Rothschild|first1=P-R|last2=Lévy|first2=D|last3=Savignoni|first3=A|last4=Lumbroso-Le Rouic|first4=L|last5=Aerts|first5=I|last6=Gauthier-Villars|first6=M|last7=Esteve|first7=M|last8=Bours|first8=D|last9=Desjardins|first9=L|last10=Doz|first10=F|last11=Lévy-Gabriel|first11=C|title=Familial retinoblastoma: fundus screening schedule impact and guideline proposal. A retrospective study|journal=Eye|volume=25|issue=12|year=2011|pages=1555–1561|issn=0950-222X|doi=10.1038/eye.2011.198}}</ref>
==Screening==
==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.<ref name="Dhar2011">{{cite journal|last1=Dhar|first1=Shweta U.|title=Outcomes of Integrating Genetics in Management of Patients With Retinoblastoma|journal=Archives of Ophthalmology|volume=129|issue=11|year=2011|pages=1428|issn=0003-9950|doi=10.1001/archophthalmol.2011.292}}</ref>
*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.<ref name="Dhar2011">{{cite journal|last1=Dhar|first1=Shweta U.|title=Outcomes of Integrating Genetics in Management of Patients With Retinoblastoma|journal=Archives of Ophthalmology|volume=129|issue=11|year=2011|pages=1428|issn=0003-9950|doi=10.1001/archophthalmol.2011.292}}</ref>
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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.<ref>{{cite book | last = Pizzo | first = Philip | title = Principles and practice of pediatric oncology | publisher = Wolters Kluwer/Lippincott Williams & Wilkins Health | location = Philadelphia, PA | year = 2011 | isbn = 160547682X }}</ref>.
*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.<ref name="RothschildLévy2011">{{cite journal|last1=Rothschild|first1=P-R|last2=Lévy|first2=D|last3=Savignoni|first3=A|last4=Lumbroso-Le Rouic|first4=L|last5=Aerts|first5=I|last6=Gauthier-Villars|first6=M|last7=Esteve|first7=M|last8=Bours|first8=D|last9=Desjardins|first9=L|last10=Doz|first10=F|last11=Lévy-Gabriel|first11=C|title=Familial retinoblastoma: fundus screening schedule impact and guideline proposal. A retrospective study|journal=Eye|volume=25|issue=12|year=2011|pages=1555–1561|issn=0950-222X|doi=10.1038/eye.2011.198}}</ref>
*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.<ref name="pmid15377991">{{cite journal| author=Shields CL, Shields JA| title=Diagnosis and management of retinoblastoma. | journal=Cancer Control | year= 2004 | volume= 11 | issue= 5 | pages= 317-27 | pmid=15377991 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15377991  }} </ref>
{| style="border: 0px; font-size: 90%; margin: 3px; width: 600px" align=center
|valign=top|
|+
! style="background: #4479BA; width: 200px;" | {{fontcolor|#FFF|Clinical context or genetic testing}}
! style="background: #4479BA; width: 400px;" | {{fontcolor|#FFF|Risk to carry germinal RB1 mutation}}
! style="background: #4479BA; width: 400px;" | {{fontcolor|#FFF|Overall RB risk for the child[a]  (%)}}
! style="background: #4479BA; width: 400px;" | {{fontcolor|#FFF|Fundus screening protocol recommendations}}
|-
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |
:Children known to carry RB1 mutation
| style="padding: 5px 5px; background: #F5F5F5;" |
*Known (100%)
| style="padding: 5px 5px; background: #F5F5F5;" |
*90
| style="padding: 5px 5px; background: #F5F5F5;" |
*First week after birth, then every month up to 18 months of age, then every 3 months up to 4 years of age
|-
| style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" |
:Parent bilaterally[b] affected
| style="padding: 5px 5px; background: #F5F5F5;" |
*100%
| style="padding: 5px 5px; background: #F5F5F5;" |
*45
| style="padding: 5px 5px; background: #F5F5F5;" |
|-
| style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" |
:Parent unilaterally affected
| style="padding: 5px 5px; background: #F5F5F5;" |
*10%
| style="padding: 5px 5px; background: #F5F5F5;" |
*4
| style="padding: 5px 5px; background: #F5F5F5;" |
*First month after birth, then every 2 months up to 2 years of age, then every 6 months up to 4 years of age
|-
| style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" |
:Sibling bilaterally[b] affected
| style="padding: 5px 5px; background: #F5F5F5;" |
*100%
| style="padding: 5px 5px; background: #F5F5F5;" |
*4
| style="padding: 5px 5px; background: #F5F5F5;" |
|-
|}
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==
==References==
{{reflist|2}}
{{reflist|2}}
{{WH}}
{{WS}}
[[Category:Disease]]
[[Category:Ophthalmology]]
[[Category:hereditary cancers]]
[[Category:Up-To-Date]]
[[Category:Oncology]]
[[Category:Medicine]]
[[Category:Ophthalmology]]

Revision as of 14:48, 2 May 2019

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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

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%.
Risk of carrying mutated gene in the relatives of a patient with retinoblastoma (Patient)(%)
Relative of patient Bilateral involvement (100%) Unilateral involvement (15%)
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 adapted from Ophthalmology journal [3]

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 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

Birth to 8 weeks

  • Every 2-4 weeks
  • Monthly
  • Monthly

>8-12 weeks

  • Monthly
  • Monthly
  • Monthly

>3 to 12 months

  • Monthly
  • Every 2 months
  • Every 3 months

>12 to 24 months

  • Every 2 months
  • Every 3 months
  • Every 4 months

>24 to 36 months

  • Every 3 months
  • Every 3 months
  • Every 6 months

>36 to 48 months

  • Every 4 months
  • Every 4-6 months
  • Every 6 months

>48 to 60 months

  • Every 6 months
  • Every 4-6 months
  • Annually

5 to 7 years

  • Every 6 months
  • Annually
  • Annually
The above table is the recommended management guideline for childhood screening of
families with affected individuals and adapted from Ophthalmology journal[3]

References

  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.
  2. ↑ 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.
  3. ↑ 3.0 3.1 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.
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