Retinoblastoma Flashcards
Describe the mechanism by which retinoblastoma tumor development occurs.
Retinoblastoma can be inherited or due to spontaneous mutations in the RB1 tumor suppressor gene. It requires two inactivated genes before tumorgenesis is initiated. In the inherited form, the patient inherits one faulty gene and aquires the second mutation. In the nonheritable form, both mutations occur in retinal cells.
T/F: Familial cases of retinoblastoma typically occur bilaterally.
True
How does retinoblastoma classically present?
Classically, it presents with a white pupillary reflex; however, in some children, strabismus is the initial presenting complaint.
How is unilateral retinoblastoma treated?
Unilateral disease can be treated with enucleation if there is no chance for useful vision. If feasible, small tumors can be treated with laser therapy or cryotherapy. Large tumors can be treated with chemotherapy, such as carboplatin, vincristine, and etoposide.
How is bilateral retinoblastoma treated?
Bilateral disease is initially treated with chemotherapy in an attempt to preserve vision. If responsive, then local tumor control can be attempted with laser therapy or cryotherapy as well.
What is the prognosis for children with retinoblastoma?
Prognosis is good for those who respond to chemotherapy or who undergo enucleation without residual tumor.
What additional risks are faced by children with retinoblastoma who have the germline RB1 mutations?
They are at high risk for developing secondary malignancies such as osteosarcoma or soft tissue sarcomas, especially if they received radiation therapy.
