Abstract
BackgroundIncreased sarcoma and melanoma risks after hereditary retinoblastoma are well established, whereas less is known about epithelial subsequent malignant neoplasms (SMNs) and risks for multiple (≥2) SMNs.MethodsLeveraging long-term follow-up and detailed histologic information, we quantified incident SMN risk among 1128 hereditary and 924 nonhereditary retinoblastoma survivors (diagnosed 1914–2006; follow-up through 2016). Standardised incidence ratios (SIRs) compared cancer risk after retinoblastoma relative to the general population. We estimated cumulative incidence accounting for competing risk of death.ResultsHereditary survivors had statistically significantly increased SMN risk (N = 239; SIR = 11.9; 95% confidence interval [CI] 10.4–13.5), with SIRs >80-fold for sarcomas, nasal cavity tumours and pineoblastoma. Significantly increased risks were also observed for melanoma and central nervous system, oral cavity and breast SMNs (SIRs = 3.1–17), but not the uterus, kidney, lung, bladder, pancreas or other types. Cumulative incidence 50 years following hereditary retinoblastoma was 33.1% (95% CI 29.0–37.2) for a first SMN and 6.0% (95% CI 3.8–8.2) for a second SMN. SMN risk was not increased after nonhereditary retinoblastoma (N = 25; SIR = 0.8; 95% CI 0.5–1.2).ConclusionBeyond the established sarcoma and melanoma risks after hereditary retinoblastoma, we demonstrate increased risk for a more limited number of epithelial malignancies than previously suggested. Cumulative incidence estimates emphasise long-term SMN burden after hereditary retinoblastoma.
Highlights
Increased sarcoma and melanoma risks after hereditary retinoblastoma are well established, whereas less is known about epithelial subsequent malignant neoplasms (SMNs) and risks for multiple (≥2) SMNs
Incomplete histologic information and inclusion of sarcomas in site-specific groups has made it difficult to distinguish epithelial tumours from sarcomas, for sites where sarcomas are observed in this population, including nasal cavity and uterus, as well as kidney and bladder.[2,10]
16% of hereditary survivors who developed an SMN had multiple SMNs compared with 8% among nonhereditary patients (Supplementary Tables S3 and S4)
Summary
Increased sarcoma and melanoma risks after hereditary retinoblastoma are well established, whereas less is known about epithelial subsequent malignant neoplasms (SMNs) and risks for multiple (≥2) SMNs. Previous studies have reported lower, but statistically significant increases for a number of epithelial cancers,[1,2,5,8] but sample sizes have been small because of the long-term follow-up required to assess risk for these malignancies, which typically occur later in life.[9] Incomplete histologic information (e.g. for cases ascertained from death certificates) and inclusion of sarcomas in site-specific groups has made it difficult to distinguish epithelial tumours from sarcomas, for sites where sarcomas are observed in this population, including nasal cavity and uterus (two common sites), as well as kidney and bladder.[2,10] it remains unclear whether risks for epithelial tumours are increased
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