Retinoblastoma and Neuroblastoma Predisposition and Surveillance.
Retinoblastoma and Neuroblastoma Predisposition and Surveillance.
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DOI：
10.1158/1078-0432.ccr-17-0652
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发表时间：
2017-07-01
期刊：
影响因子：
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通讯作者：
Brodeur GM
中科院分区：
文献类型：
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作者：
Kamihara J;Bourdeaut F;Foulkes WD;Molenaar JJ;Mossé YP;Nakagawara A;Parareda A;Scollon SR;Schneider KW;Skalet AH;States LJ;Walsh MF;Diller LR;Brodeur GM
视网膜母细胞瘤是儿童期最常见的眼内恶性肿瘤。大约40%的视网膜母细胞瘤是遗传性的，并且是由于RB 1基因中的种系突变。患有遗传性RB的儿童也有发生中线颅内肿瘤的风险，最常见的是成松果体细胞瘤。我们建议对生殖系RB 1突变的视网膜母细胞瘤患者进行强化眼部筛查，并对成松果体细胞瘤进行神经影像学监测。在患有遗传性RB的个体中，发生第二原发性癌症的风险约为20%，在接受原发性RB肿瘤放疗的患者中更高。然而，目前还没有一个明确的共识，如果有的话，筛选协议将是最适当和有效的。神经母细胞瘤（NB）是一种交感神经系统的胚胎性肿瘤，占儿童癌症死亡的15%。先前的研究表明，约2%的NB患者具有潜在的遗传易感性，可能导致NB的发展。ALK和PHOX 2B的生殖系突变是大多数家族性NB病例的原因。然而，其他癌症易感综合征，如Li-Fraumeni综合征，RASopathies等，可能与NB风险增加有关。目前还没有关于监测NB的既定规程。在这里，我们描述了AACR儿童癌症易感性研讨会关于遗传性RB和NB的共识建议。
Retinoblastoma (RB) is the most common intraocular malignancy in childhood. Approximately 40% of retinoblastomas are hereditary and due to germline mutations in the RB1 gene. Children with hereditary RB are also at risk for developing a midline intracranial tumor, most commonly pineoblastoma. We recommend intensive ocular screening for patients with germline RB1 mutations for retinoblastoma as well as neuroimaging for pineoblastoma surveillance. There is an approximately 20% risk of developing second primary cancers among individuals with hereditary RB, higher among those who received radiotherapy for their primary RB tumors. However, there is not yet a clear consensus on what, if any, screening protocol would be most appropriate and effective. Neuroblastoma (NB), an embryonal tumor of the sympathetic nervous system, accounts for 15% of pediatric cancer deaths. Prior studies suggest that about 2% of patients with NB have an underlying genetic predisposition that may have contributed to the development of NB. Germline mutations in ALK and PHOX2B account for most familial NB cases. However, other cancer predisposition syndromes, such as Li–Fraumeni syndrome, RASopathies, and others, may be associated with an increased risk for NB. No established protocols for NB surveillance currently exist. Here, we describe consensus recommendations on hereditary RB and NB from the AACR Childhood Cancer Predisposition Workshop.