Retinoblastoma (RB) is the most common ocular neoplasm in children, whose development depends on two mutational events that occur in both alleles of the retinoblastoma susceptibility gene (RB1). Regarding the nature of these mutational events, RB can be classified as hereditary if the first event is a germline mutation and the second one is a somatic mutation in retina cells or nonhereditary if both mutational events occur in somatic cells. Although the rate of survival of RB is significantly elevated, the incidence of second malignant neoplasms (SMNs) is a concern, since SMNs are the main cause of death in these patients. Effectively, RB patients present a higher risk of SMN incidence compared to other oncology patients. Furthermore, evidence confirms that hereditary RB survivors are at a higher risk for SMNs than nonhereditary RB survivors. Over the decades, some studies have been performed to better understand this subject, evaluating the risk of the development of SMNs in RB patients. Furthermore, this risk seems to increase with the use of ionizing radiation in some therapeutic approaches commonly used in the treatment of RB. This review aims to clarify the effect of ionizing radiation in RB patients and to understand the association between the risk of SMN incidence in patients that underwent radiation therapy, especially in hereditary RB individuals.
视网膜母细胞瘤（RB）是儿童中最常见的眼部肿瘤，其发生依赖于视网膜母细胞瘤易感基因（RB1）两个等位基因上发生的两次突变事件。根据这些突变事件的性质，若第一次事件为种系突变、第二次为视网膜细胞的体细胞突变，则RB可归类为遗传性；若两次突变事件均发生在体细胞中，则为非遗传性。尽管RB的生存率显著提高，但第二恶性肿瘤（SMNs）的发生率仍备受关注，因为SMNs是这类患者的主要死亡原因。实际上，与其他肿瘤患者相比，RB患者发生SMNs的风险更高。此外，证据证实遗传性RB幸存者比非遗传性RB幸存者面临更高的SMNs风险。几十年来，已有一些研究致力于深入理解这一主题，评估RB患者发生SMNs的风险。值得注意的是，在RB治疗中常用的某些放射治疗方法使用电离辐射，似乎会增加这一风险。本综述旨在阐明电离辐射对RB患者的影响，并探讨接受放射治疗的患者（尤其是遗传性RB个体）发生SMNs风险之间的关联。
Risk of Second Tumors in Retinoblastoma Survivors after Ionizing Radiation: A Review
肿瘤(癌症)患者之家