Abstract
Simple SummaryCurrently survival from retinoblastoma exceeds 95% in high-income/resource countries. Life expectancy within the heritable retinoblastoma population is mainly threatened by trilateral retinoblastoma in early childhood and subsequent malignant neoplasms throughout life. In this review the risks of specific subsequent malignant neoplasms and trilateral Rb, age at onset and influence of therapy are examined. Furthermore, long-term surveillance guidelines in the heritable retinoblastoma survivors are discussed.Retinoblastoma (Rb) is a pediatric malignant eye tumor. Subsequent malignant neoplasms (SMNs) and trilateral Rb (TRb) are the leading cause of death in heritable Rb patients in developed countries. The high rate of SMNs in heritable Rb patients is attributed to the presence of a mutation in the RB1 tumor suppressor gene. In addition, Rb therapy choices also influence SMN incidence in this patient group. The incidence rates and age of occurrence for the most frequent SMNs and TRb will be discussed. In addition, the impact of genetic predisposition and Rb treatments on the development of SMNs will be evaluated. Furthermore, screening and other prevention methods will be reviewed.
Highlights
Retinoblastoma (Rb) is a pediatric malignant eye tumor
Systemic chemotherapy reduces the tumor bulk, followed by focal treatment, leading to further regression of the tumor. This treatment sequence, has a relatively poor performance to rescue or salvage eyes with advanced Rb [27]. Such eyes can often be saved with superselective intra-arterial chemotherapy (IAC) that has been increased in use since
In a German pediatric survivor cohort different latency was seen for solid versus non-solid SMNs, all solid tumors were seen at an age >5 and all non-solid tumors were diagnosed
Summary
Subsequent malignant neoplasms (SMNs) after retinoblastoma (Rb) are denoted as second cancers or second (or subsequent) primary malignancies These are new tumors with differential histology, which form independently after occurrence of the primary Rb. A combination of genetics and treatment factors, lead to an elevated risk for survivors of heritable Rb to develop SMNs compared to the general population. Examples of SMN sites, with strong evidence of risk are bone and soft tissue (sarcomas), skin (melanomas), brain and spinal cord (CNS tumor). Differences between SMN, TRb and Rb metastasis for risk, site, spread and histology are listed [3,4,7].
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