Memorial Sloan Kettering Cancer Center, New York, New York; Weill Cornell Medical College, New York, New York.
Memorial Sloan Kettering Cancer Center, New York, New York.
Ophthalmology. 2020 Nov;127(11):1549-1557. doi: 10.1016/j.ophtha.2020.05.024. Epub 2020 May 15.
To generate recommendations for long-term follow-up of adult survivors of heritable retinoblastoma.
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.
Retinoblastoma is a rare childhood cancer of the retina. Approximately 40% of retinoblastoma cases are heritable, resulting from a germline mutation in RB1. Dramatic improvements in treatment and supportive care have resulted in a growing adult survivor population. However, survivors of heritable retinoblastoma have a 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. Despite these risks, no surveillance recommendations for this population currently are in place, and surveillance practices vary widely by center.
Following the Institute of Medicine procedure for clinical practice guideline development, a PubMed, EMBASE, and Web of Science search was performed, resulting in 139 articles; after abstract and full-text review, 37 articles 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.
Diagnosis and mortality from subsequent neoplasm.
Although 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.
This review of the literature confirmed some of the common second cancers in retinoblastoma survivors but found little evidence for a benefit from currently available surveillance for these malignancies. Future research should incorporate international partners, patients, and family members.
为遗传性视网膜母细胞瘤成年幸存者的长期随访提供建议。
我们召集了来自世界各地视网膜母细胞瘤中心的提供者开会，回顾科学现状，并评估已发表的证据。
视网膜母细胞瘤是一种罕见的儿童视网膜癌症。大约 40%的视网膜母细胞瘤病例是遗传性的，是由 RB1 种系突变引起的。治疗和支持性护理的显著改善导致了一个不断增长的成年幸存者群体。然而，遗传性视网膜母细胞瘤的幸存者有明显更高的后续恶性肿瘤风险，特别是骨和软组织肉瘤、子宫平滑肌肉瘤、黑色素瘤和放射治疗相关的中枢神经系统肿瘤，这些肿瘤与发病率和死亡率增加有关。尽管存在这些风险，但目前针对这一人群尚无监测建议，并且监测实践因中心而异。
遵循医学研究所临床实践指南制定程序，进行了 PubMed、EMBASE 和 Web of Science 搜索，共获得 139 篇文章；经过摘要和全文审查，37 篇文章进行了详细的数据提取，以量化有关监测的风险和证据（如果有）。在一次现场会议上，展示和讨论了证据，从而达成了共识建议。
后续肿瘤的诊断和死亡率。
尽管随后发生肿瘤（特别是肉瘤和黑色素瘤）的风险证据显著，但没有发现针对无症状幸存者进行常规检测的证据。确定对黑色素瘤进行皮肤检查以及及时评估头颈部疾病的体征和症状是谨慎的做法。
对文献的回顾证实了一些常见的视网膜母细胞瘤幸存者的第二癌症，但发现目前可用的这些恶性肿瘤监测方法并没有带来益处。未来的研究应纳入国际合作伙伴、患者和家庭成员。
