Flashcards in retinoblastoma Deck (16)
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1
Secondary malignancies seen in heritable Rb
Top 3: osteo, STS, melanoma
Rads field: osteo, fibrous histioma, leiomyosarcoma, angiosarcoma, RMS, PNET, meningioma, glioma
Non-rads: Osteo, RCC, Ewings, Medullo, melanoma, Hodgkin's
2
Which mutations are seen in Rb
99% Rb1
1% Myc-N - unilateral
3
Presenting symptoms of Rb
Leukocoria
strabismus
nystagmus
buphthalmos
glaucoma
periorbital cellulitis
proptosis
mets
4
Diagnostic w/u
EUA
U/S of eye
MRI orbits + brain
Bone scan/BM/CSF only if high risk histology or extra-ocular Rb
Genetic consult
5
Differential diagnosis
Congenital cataracts
Coat's
Persistent fetal vasculature
retinitis - toxo
medulloepithelioma (tumor of ciliary pigment)
astrocytic hamartoma
choroidal osteoma
6
Describe classification of eye
A - small <3mm and away from foveola and optic disc
B - all remaining tumors confined to retina
C- local subretinal or vitreous seeding
D - diffuse seeding
E - more than 2/3 globe filled with tumor
7
Describe staging system
0 - Not enucleated.
1 - Enucleated. CR
2- Enucleated. Microscopic residula
3 - Regional extension (orbital disease or pre-auricular/cervical LN)
4 - Mets (hematogenous, CNS)
8
Chemotherapy options
Systemic:
- VCR/Carbo/Etop x 6 cycles (can drop Etop for grp B)
Intra-arterial:
- Melphalan
- Carbo, melphalan
9
Focal therapy options
Cryotherapy
Thermotherapy
Photocoagulation
Brachytherapy
10
Definition of high risk histology (post enucleation)
- massive choroidal replacement
- ciliary body infiltration
- iris infiltration
- sclearal invasion
- ant. chamber seeding
- post-laminar involvement (lamina cribrosa)
11
What are the metastatic sites for Rb
Bone
BM
Liver
CNS
12
Which Rb patients should be screened for germline Rb mutations?
Everyone!
- 15% unilaterals have germline Rb mutation
13
What screening for offspring/sibs
HR: EUA Q4wk x 12 m, then Q8w, Q12w, Q6m
LR: EUA Q3-4m then Q6m
HR:
- Known Rb1 mutation in child,
- Positive FHx
- Sibling/offspring of survivor with BL Rb or UL with known Rb1 mutation.
- 90% penetrance for Rb+
14
What is the ocular salvage rate for unilateral and bilateral RB
Unilateral: 75%
Bilateral: 65-75%
15
Which syndrome is associated with Rb
13q deletion syndrome: microcephaly, dysmorphisms, mental retardation
16
