Wilms tumors are commonly associated with predisposition syndromes. Many of these syndromes are associated with specific phenotypic features and are discussed in the related paper from the AACR Pediatric Cancer Working Group. Guidelines for surveillance in this population were published in 2017 but since then several studies have identified new genes with recurrent pathogenic variants associated with increased risk for Wilms tumor development. In general, variants in these genes are less likely to be associated with other phenotypic features. Recently, members of the AACR Pediatric Cancer Working Group met to update surveillance guidelines for patients with a predisposition to Wilms tumors with a review of recently published evidence and risk estimates. Risk estimates for Wilms tumor for the more recently described genes are discussed here along with suggested surveillance guidelines for these populations. Several other emerging clinical scenarios associated with Wilms tumor predisposition are also discussed including patients with family histories of Wilms tumor and no identified causative gene, patients with bilateral tumors, and patients with somatic mosaicism for chromosome 11p15.5 alterations. This perspective serves to update pediatric oncologists, geneticists, radiologists, counselors and other healthcare professionals on emerging evidence and harmonize updated surveillance recommendations in the North American and Australian context for patients with emerging forms of Wilms tumor predisposition.

中文翻译：

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新发肾母细胞瘤易感综合征监测指南更新


肾母细胞瘤通常与易感综合征有关。其中许多综合征与特定的表型特征有关，并在 AACR 儿科癌症工作组的相关论文中进行了讨论。该人群的监测指南于 2017 年发布，但此后几项研究确定了具有与肾母细胞瘤发展风险增加相关的复发性致病性变异的新基因。一般来说，这些基因中的变异不太可能与其他表型特征相关。最近，AACR 儿科癌症工作组的成员召开会议，通过审查最近发表的证据和风险估计，更新了对肾母细胞瘤易感患者的监测指南。本文讨论了最近描述的基因对肾母细胞瘤的风险估计以及针对这些人群的建议监测指南。还讨论了与 Wilms 肿瘤易感性相关的其他几种新兴临床情况，包括有 Wilms 肿瘤家族史且未确定致病基因的患者、双侧肿瘤患者以及染色体 11p15.5 改变的体细胞嵌合体患者。该观点有助于为儿科肿瘤学家、遗传学家、放射科医生、咨询师和其他医疗保健专业人员提供有关新证据的最新信息，并协调北美和澳大利亚针对新出现的肾母细胞瘤易感性患者的最新监测建议。