Where should an infant diagnosed with retinoblastoma be referred for treatment?

Referral for Infants with Retinoblastoma

Infants diagnosed with retinoblastoma should be immediately referred to a pediatric cancer center with a multidisciplinary team that includes a pediatric ophthalmologist and pediatric oncologist. 1

Primary Referral Pathway

1. Initial Diagnosis:

   • When retinoblastoma is suspected (typically presenting with leukocoria or white pupillary reflex), immediate referral is required
   • The American Academy of Pediatrics explicitly states that "infants or children with retinoblastoma or other tumors of the eye and orbital area" should be referred to a pediatric ophthalmologist 1

2. Definitive Care Setting:

   • Treatment must be coordinated at a specialized pediatric cancer center 1
   • The American Academy of Pediatrics recommends: "Children and adolescents with newly suspected and/or recurrent malignancy should be referred to a pediatric cancer center for prompt and accurate diagnosis and management" 1

Required Imaging Before Referral

• MRI of head and orbits with and without IV contrast is the most useful initial imaging modality for evaluation of retinoblastoma 1

• MRI can show:

  • Retrolaminar optic nerve infiltration
  • Choroid-scleral infiltrations
  • Orbital invasion
  • Concurrent intracranial tumor
  • Possible intracranial spread 1

• CT may be helpful as a complementary study to evaluate calcifications and extension along optic nerves 1

Multidisciplinary Team Requirements

The pediatric cancer center should have:

1. Core Team Members:

   • Board-certified pediatric hematologist/oncologist (treatment coordinator)
   • Pediatric ophthalmologist with specialized training
   • Pathologist experienced in pediatric oncology
   • Pediatric radiation oncologist
   • Pediatric surgeons as needed

2. Support Services:

   • Specialized nursing staff
   • Social workers
   • Pharmacists
   • Nutritionists
   • Psychologists specialized in pediatric oncology 1

Rationale for Specialized Center Referral

1. Improved Outcomes:

   • Clinical results in children with cancer are superior when specialized diagnostic, supportive, and specific care is given at a pediatric cancer center 1
   • Early diagnosis and appropriate treatment depend on a multidisciplinary approach uniquely available at pediatric cancer centers 1

2. Diagnostic Accuracy:

   • Incorrect histologic diagnosis may occur when initial management happens at non-specialized hospitals 1
   • Ideally, diagnostic procedures should be performed at the cancer center where all specialized studies can be obtained 1

3. Treatment Planning:

   • Retinoblastoma requires complex treatment planning that may include:
     • Chemotherapy (systemic or intra-arterial)
     • Local therapies (thermotherapy, cryotherapy)
     • Surgery (enucleation when necessary)
     • Radiation therapy in selected cases 2, 3

Genetic Considerations

• Retinoblastoma is often associated with germline mutations in the RB1 gene 1
• Genetic counseling should be part of the comprehensive care plan
• Referral for genetic evaluation is warranted regardless of family history 1

Follow-up Care Coordination

• After diagnosis and treatment plan establishment at the pediatric cancer center, certain aspects of care may be continued with the primary care pediatrician for selected children 1
• This shared care model requires:
  • Regular communication between specialists and primary care
  • Understanding that the child will be referred back to the cancer center if complications develop or tumor recurs 1

Common Pitfalls to Avoid

1. Delayed Referral: Early diagnosis is critical for preserving vision and life 4
2. Inadequate Imaging: Using only CT without MRI may miss important details of tumor extension 1
3. Fragmented Care: Treatment at non-specialized centers without multidisciplinary expertise can lead to suboptimal outcomes 1
4. Overlooking Genetic Implications: Failure to provide genetic counseling and testing may miss heritable forms that carry risk of second tumors 4

Retinoblastoma is curable when detected at early stages, but requires prompt referral to specialized centers with the expertise and resources to provide comprehensive care 2.