RETINOBLASTOMA Flashcards
Retinoblastoma (RB) is a __________ tumor arising from primitive retinal cells before final differentiation
It accounts for about _____% of all childhood cancers
malignant tumor
3%
____________ is the most common primary malignant intraocular tumor of childhood
Retinoblastoma
Epidemiology
It occurs in 1 in _________ live births
______ gender or racial predilection
Mean age at presentation is ________ in heritable cases & closer to __________ in non- heritable cases
Tumor is seldom seen after 3 years of age & extremely rare after 6 years of age
15-20,000
No; under 12 month
24 months
Genetics
The predisposing gene is ———-, which may be _________ or ___________
RB1
Heritable or non-heritable
RB1 is a _____________ gene located on _______
tumor suppressor
13q14
Genetics
Heritable (germ line) RB
- accounts for ____% of cases
- associated with _________________
- there is risk of _______/________ RB ( as all cells have inherited 1 mutant allele)
- there is risk of ________________ elsewhere (pinealoma, osteosarcoma, melanoma )
- mean age at presentation is _______
40
advanced paternal age
bilateral/multifocal
nonocular malignancies
1 year
Genetics
Non-heritable (somatic) RB
- accounts for ______% of cases
- usually ________ & not transmissible
-__________ predispose the patient to second non- ocular cancers
- mean age at presentation – _______
60; unilateral
does not; 2 years
Genetics
Risk to siblings/offspring
- if a child has heritable RB, the risk to the sibling is ____% if parents are unaffected & ____% if parents are affected
- if there is no family history & the tumor is unilateral, the risk to each sibling & offspring is ___%
- about 15% of patients with heritable RB manifest _____lateral involvement
2; 40
1
uni
Clinical features of retinoblastoma
__________ (__________ reflex)
__________
Reduction in __________
__________ due to secondary glaucoma __________ due to tumor induced uveitis Features of __________
__________
Features of ________________ in trilateral RB
Leukocoria (white pupil reflex)
Strabismus
Reduction in vision
Buphthalmos
Acute red eye due
orbital inflammation
Proptosis
raised intracranial pressure
Differential diagnosis of Leukocoria
Congenital ________
Persistent _________________ vasculature
________ disease
Retinopathy of ________ (advanced cicatricial)
________
Posterior ________
Retinal ________
cataract
anterior fetal vasculature
Coats disease
Retinopathy of prematurity
Toxocariasis
Posterior uveitis
Retinal coloboma
Investigation of retinoblastoma
Ocular ____________ (B-scan)
_______– not routinely indicated. Best avoided in ___________
__________
DNA analysis for mutation – peripheral blood, tumor tissue
ultrasound
CT scan; heritable RB
MRI
Treatment of Retinoblastoma
Goal of management
- 1st (to ____________ )
- 2nd (to ____________)
- 3rd (to ____________)
Multidisciplinary
- ophthalmologist, paediatric oncologist, radiotherapist, geneticist, ocular prosthetist, medical social workers, nurses
•
save life
save eye)
maximise vision
Treatment
Small tumors up to 3mm diameter &2mm thickness
-________________/ _______________
-____________ for pre-equatorial tumors
-_____________ especially macular tumors
Laser photocoagulation
transpupillary thermotherapy
Cryotherapy; Chemotherapy
Treatment
Medium sized tumors up to 12mm in diameter & 6mm thickness
- _______therapy
- _________therapy (IV carboplatin,etoposide &vincristine to shrink tumor + __________________
-___________________________(EBR) - to be avoided if possible in heritable RB
Brachy; Chemo
transpupillary thermotherapy
External beam radiotherapy
Treatment
Large tumors
-__________ to shrink tumor (chemoreduction) facilitating subsequent local treatment or _________
- ___________ especially if there is rubeosis iridis, vitreous haemorrhage or optic nerve invasion. Also, if chemotherapy fails
Chemotherapy; EBR
Enucleation
Treatment for large tumors
Extraocular extension
-_________
-________
Metastatic disease
- high dose chemotherapy
- intrathecal chemotherapy (methotrexate)
- myeloablative therapy
- focal, craniospinal or total body radiotherapy
chemotherapy; EBR
Future prospect
____________ therapy
______ therapy
Use of _____________________ growth factors
Intravitreal chemotherapy
Intra-arterial chemotherapy
Photodynamic
Gene
anti vascular endothelial
Follow up
Active tumor on treatment requires follow up every _________
Heritable tumor – ______ till _______
If tumor has been treated conservatively, EUA every _____ months until age _________
Thereafter, examination +/- anesthesia every 6 months until age 5 years; then annually for life
3 weeks
monthly; one year
3; 3 years
