Synchronous Bilateral Retinoblastoma and Precursor B‐Cell Acute Lymphoblastic Leukemia in a Treatment‐Naive Infant With a De Novo Germline RB1 Variant

Key Points

• To describe a unique case of synchronous bilateral retinoblastoma and precursor B-cell acute lymphoblastic leukemia in an infant with a germline RB1 variant.
• Case report description of a treatment-naive infant
• Genetic analysis for RB1 variant
• Clinical assessment of both cancers
• The infant presented with bilateral retinoblastoma and leukemia
• Identification of a de novo germline RB1 variant
• No prior treatment was administered before diagnosis

Abstract