Unusual Clinical Behavior of a Very Late Retinoblastoma Relapse in a
Patient with a Germline RB Mutation
Abstract
Retinoblastoma is the most common ocular tumor of childhood with cure
rates exceeding 95%. Patients with high-risk features typically relapse
within 3 years of diagnosis. We report a patient with low-risk bilateral
retinoblastoma who suffered systemic relapse after eight years. His
disease at first relapse was chemosensitive without PET avidity or bone
marrow disease following therapy. Six months later, he experienced an
isolated CNS relapse and succumbed to refractory disease. “Oncoseq”
exome sequencing confirmed the presence of germline RB mutation among
all tissues as well as somatic changes which may provide insights into
the biology of relapse and tumor.