Retinoblastoma

Question 1

Retinoblastoma germline mutation epi, inheritance

Answer 1

10-15%
100% of bilateral

aut dom

Question 2

RB1 function

Answer 2

tumor suppressor

Question 3

Retinoblastoma age at presentation

Answer 3

60% <2yo
95% <5yo

Question 4

Retinoblastoma genetics

Answer 4

RB1 mutation 10-15%
del13q (13q deletion syndrome)
chromothripsis
MYCN (1-2%)

Question 5

Retinoblastoma presentation

Answer 5

leukocoria (abn red reflex) 70%
strabismus 10-15%
nystagmus 5-10%
heterochromia
proptosis
LN
mets

Question 6

Retinoblastoma dx

Answer 6

exam under anesthesia
MR brain/orbits
HR: b/l BMA, LP
no biopsy

Question 7

Retinoblastoma DDx

Answer 7

congenital cataract
ROP
Coat’s disease
persistent fetal vasculature
retinitis (toxoplasma)

tumors: medulloepithelioma, astorcytic hamartoma, choroidal osteoma, ocular melanoma

Question 8

Retinoblastoma family screening

Answer 8

genetic testing for all family members

known germline:
- test family members
- optho screening q4w at birth until genetics done

no known mutation
- optho screening until 5yo

Question 9

Retinoblastoma other malignancy risk

Answer 9

Pineoblastoma (trilateral)

SMN: EML, osteo, STS, melanoma

Question 10

Trilateral retinoblastoma

Answer 10

bilateral RB + pineal/parasellar blastoma

3-5%

Question 11

retinoblastoma path

Answer 11

SRBC
Flexner-Wintersteiner rosettes

Question 12

retinoblastoma IRSS staging system

Answer 12

0: conservative mgt
I: enucleated, completely resected
II: enucleated; microscopic residual, high risk path
III: regional extension
IV: metastatic (bone, BM, liver, CNS extension)

Question 13

retinoblastoma high risk pathology

Answer 13

invasion of sclera, choroid, optic nerve cut margin

Question 14

retinoblastoma enucleation indications

Answer 14

advanced disease
no vision potential
life-threatening
failure of ocular salvage

group E unilateral (>2/3 globe filled wtih tumor, anterior segment ciliary body, iris neovasc, neovasc glaucoma, tumor necrosis)

Question 15

retinoblastoma enucleation process

Answer 15

full enucleation
1+ cm optic nerve
orbital implant, wrapped in tissue with 4 rectus muscles attached

Question 16

retinoblastoma RT indications

Answer 16

R/R
extraocular

only >1yo

Question 17

retinoblastoma chemotherapy

Answer 17

upfront
- Group A progression after focal
- Group B/C/D systemic
- Group E enucleation + chemo

adjuvant: high risk path

VCE: VCR, carbo, etop
- omit etop if early group B

Question 18

retinoblastoma px

Answer 18

eye salvage >90%, unless group D (50-80%) or E (25-50%)

extraorbital 3yEFS/OS 77%

CNS disease: 3yOS 12%

Question 19

retinoblastoma quadrilateral

Answer 19

bilateral RB
2 x midline tumors suprasellar/parasellar

Question 20

retinoblastoma Groups

Answer 20

A: small (<3mm) tumors away from fovea (3+mm) and disc (1.5 mm)

B: confined to retina

C: local subretinal fluid/seeding

D: diffuse subretinal fluid/seeding

E: poor px features
- >2/3 globe filled w tumor
- ant ciliary body
- iris neovasc, neovasc glaucoma
- tumor necrosis

Question 21

del13q syndrome

Answer 21

large 13q deletion, including RB1 locus

intellectual disability
dysmorphisms
GI
FTT

Question 22

retinoblastoma local therapy

Answer 22

subconjunctival injection
intravitreal
topical
intra-arterial chemo: melphalan, carbo, Pt, topotecan

cryotherapy
thermotherapy
brachytherapy

Question 23

retinoblastoma chemo

Answer 23

VCE: VCR, carbo +- etop

intraarterial: melphalan, carbo, topotecan

Question 24

retinoblastoma EBRT indications

Answer 24

R/R
monocular with refractory intraocular disease

only >1yo

Question 25

retinoblastoma SMN

Answer 25

20-35% cumulative incidence at 50yo
- RT doubles risk (40%)

AML (etop)
osteosarcoma
STS
melanoma