Recommendations for long-term follow-up of adults with heritable retinoblastoma

Emily S Tonorezos, Danielle Novetsky Friedman, Dana Barnea, Machteld I Bosscha, Guillermo Chantada, Charlotte J Dommering, Pim de Graaf, Ira J Dunkel, Armida W M Fabius, Jasmin H Francis, Mary-Louise C Greer, Ruth A Kleinerman, Wijnanda A Kors, Suzanne Laughlin, Annette C Moll, Lindsay M Morton, Petra Temming, Margaret A Tucker, Flora E van Leeuwen, Michael F WalshKevin C Oeffinger, David H Abramson

Research output: Contribution to journalArticleAcademicpeer-review

24 Citations (Scopus)


OBJECTIVE: Generate recommendations for long-term follow-up for adult survivors of heritable retinoblastoma.

DESIGN: We convened a meeting of providers from retinoblastoma centers around the world to review the state of the science and to evaluate the published evidence.

SUBJECTS: Retinoblastoma is a rare childhood cancer of the retina. Approximately forty percent of retinoblastoma cases are heritable, due to a germline mutation in RB1. Dramatic improvements in treatment and supportive care have resulted in a growing adult survivor population. Survivors of heritable retinoblastoma, however, have significantly increased risk of subsequent malignant neoplasms, particularly bone and soft tissue sarcomas, uterine leiomyosarcoma, melanomas, and radiotherapy-related central nervous system tumors, which are associated with excess morbidity and mortality. In spite of these risks, no surveillance recommendations for this population are currently in place and surveillance practices vary widely by center.

METHODS: Following the Institute of Medicine procedure for clinical practice guideline development, a PubMed, EMBASE, and Web of Science search was performed, resulting in 139 papers; after abstract and full text review, 37 papers underwent detailed data abstraction to quantify risk and evidence regarding surveillance, if available. During an in-person meeting, evidence was presented and discussed, resulting in consensus recommendations.

MAIN OUTCOME MEASURES: Diagnosis and mortality from subsequent neoplasm.

RESULTS: While evidence for risk of subsequent neoplasm, especially sarcoma and melanoma, was significant, evidence supporting routine testing of asymptomatic survivors was not identified. Skin examination for melanoma and prompt evaluation of signs and symptoms of head and neck disease were determined to be prudent.

CONCLUSIONS: This review of the literature confirmed some of the common second cancers in retinoblastoma survivors, but found little evidence for a benefit to currently available surveillance for these malignancies. Future research should incorporate international partners, patients, and family members.

Original languageEnglish
Pages (from-to)1549-1557
Number of pages9
Issue number11
Early online date15 May 2020
Publication statusPublished - Nov 2020

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