Retinoblastoma Diagnosis and Management

Initial Diagnosis and Referral

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, as recommended by the American Academy of Pediatrics 1, 2
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

Treatment must be coordinated at a specialized pediatric cancer center, as recommended by the American Academy of Pediatrics 2
The American Academy of Pediatrics recommends that 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 2

MRI of head and orbits with and without IV contrast is the most useful initial imaging modality for evaluation of retinoblastoma, as it can show retrolaminar optic nerve infiltration, choroid-scleral infiltrations, orbital invasion, concurrent intracranial tumor, and possible intracranial spread 3
CT may be helpful as a complementary study to evaluate calcifications and extension along optic nerves 3
Using only CT without MRI may miss important details of tumor extension 3

The pediatric cancer center should have a core team that includes a board-certified pediatric hematologist/oncologist, pediatric ophthalmologist with specialized training, pathologist experienced in pediatric oncology, pediatric radiation oncologist, and pediatric surgeons as needed 2
Support services should include specialized nursing staff, social workers, pharmacists, nutritionists, and psychologists specialized in pediatric oncology 2

Clinical results in children with cancer are superior when specialized diagnostic, supportive, and specific care is given at a pediatric cancer center 2
Early diagnosis and appropriate treatment depend on a multidisciplinary approach uniquely available at pediatric cancer centers 2
Retinoblastoma requires complex treatment planning that may include chemotherapy, local therapies, surgery, and radiation therapy 2

Retinoblastoma is often associated with germline mutations in the RB1 gene, and genetic counseling should be part of the comprehensive care plan 4
Referral for genetic evaluation is warranted regardless of family history 4

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, with regular communication between specialists and primary care 2
Understanding that the child will be referred back to the cancer center if complications develop or tumor recurs is crucial 2

Fragmented care at non-specialized centers without multidisciplinary expertise can lead to suboptimal outcomes 2
Failure to provide genetic counseling and testing may miss heritable forms that carry risk of second tumors 4