retinoblastoma Flashcards Preview

SADL Oncology > retinoblastoma > Flashcards

Flashcards in retinoblastoma Deck (16):
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

Risk of secondary malignancy in retinoblastoma

36-40% if Rb1 germline & radiation

15-20% if Rb1 germline

5% if no Rb1 germline