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RB1 Second Cancers — SCE Medical Oncology MCQ

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HardCancer GeneticsRB1 Second CancersSCE Medical Oncology

A 55-year-old woman with hereditary retinoblastoma (germline RB1 mutation) survived bilateral retinoblastoma in childhood. She is now 55 and presents with an osteosarcoma of the femur. What is the relationship?

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Correct answer: A — Hereditary retinoblastoma (germline RB1 mutation) confers significantly increased risk of secondary cancers including osteosarcoma (~400× risk), soft tissue sarcoma, melanoma and breast cancer — lifelong cancer surveillance is needed

Germline RB1 mutation carriers (hereditary retinoblastoma) have a substantially elevated lifetime risk of non-ocular second cancers: osteosarcoma (~400× risk, peak age 10-20 years), soft tissue sarcoma, melanoma, brain tumours and breast cancer (elevated risk emerging in adulthood). The risk is further increased by prior radiation therapy. Second cancers are the leading cause of mortality in long-term retinoblastoma survivors. Lifelong surveillance includes annual whole-body MRI and breast MRI (from age 25 in women). Radiation exposure should be minimised.

Reference: ESMO 2024 Hereditary Cancer/Survivorship; Kleinerman et al JCO 2012; NICE