Retinoblastoma
Synonyms: RB, hereditary retinoblastoma, familial retinoblastoma
SYSTEMIC GENETIC Syndrome
Quick Facts
Behaviour
Not set
Category
Syndrome
Synonyms
- RB
- hereditary retinoblastoma
- familial retinoblastoma
Category
Syndrome
Gender
M = F
Epidemiology
- Autosomal dominant cancer predisposition Syndrome
- RB1 germline mutations
- Incidence hereditary 1 in 15,000
- High risk for multifocal bilateral disease
- Increased risk secondary malignancies (especially Bone sarcomas)
Clinical Features
- Eye cancer (retina) typically age <5 years
- Leukocoria (white pupil reflex)
- Strabismus
- Ocular pain/inflammation
- Metastases if advanced
Location
- Retina bilaterally in 25% hereditary
- Associated with Bone sarcoma risk (femur, tibia, pelvis)
Imaging
- Ophthalmology ultrasound: initial screening
- MRI orbit: assess extent
- Full systemic staging if malignancy confirmed
- Surveillance for secondary Bone sarcomas
Pathology
- Immature Neural retinal cells
- High-grade malignancy
- Calcifications common
Genetics
- RB1 germline mutations
- Autosomal dominant inheritance
- High penetrance, Variable expression
Treatment
- Chemotherapy
- Radiotherapy
- Laser therapy or cryotherapy (globe-sparing)
- Enucleation if necessary
- Surveillance for secondary malignancies
Prognosis
- Good if caught early
- 95% cure rate with modern therapy (eye-sparing)
- Secondary malignancy risk 50% by age 50
Key Points
- SYSTEMIC GENETIC Syndrome
- RB1 germline mutations
- High secondary malignancy risk
- Requires lifetime surveillance
Workup - Blood Tests
RB1 genetic testing
Workup - Local Imaging
- Ophthalmology examination: essential
- MRI orbit: local staging
- Whole-body imaging: systemic staging
- Baseline skeletal survey (secondary malignancy risk)
Workup - Biopsy
Not required (diagnosis via imaging)
Workup - Staging
- International Classification of Retinoblastoma (ICRB)
- Full metastatic staging
Workup - Other
- Ophthalmology consultation mandatory
- Genetics consultation
- Family member testing (RB1)
- Psychological support
Follow-up Summary
- 1
Regular ophthalmology surveillance
- 2
Annual whole-body imaging first few years
- 3
Lifelong surveillance for secondary malignancies
- 4
Bone sarcoma risk especially age 5-30 years
- 5
Genetic counselling for family
Medical disclaimer
The content on Sarcopedia is for educational and informational purposes only and does not constitute medical advice. It is not intended to be a substitute for professional medical diagnosis or treatment. Always consult with a qualified physician regarding any health concerns or before starting any new treatment. Reliance on any information provided on this site is solely at your own risk.