Background/Purpose

Cancer predisposition syndromes (CPS) are a heterogeneous group of inherited disorders that greatly increase the risk of developing malignancies. CPS are particularly relevant to pediatric surgeons since nearly 10% of cancer diagnoses are due to inherited genetic traits, and CPS often contribute to cancer development during childhood.

Materials/Methods

The English language literature was searched for manuscripts, practice guidelines, and society statements on “cancer predisposition syndromes in children”. Following review of these manuscripts and cross-referencing of their bibliographies, tables were created to summarize findings of the most common CPS associated with surgically treated pediatric solid malignancies.

Results

Pediatric surgeons should be aware of CPS as the identification of one of these syndromes can completely change the management of certain tumors, such as WT. The most common CPS associated with pediatric solid malignancies are outlined, with an emphasis on those most often encountered by pediatric surgeons: neuroblastoma, Wilms’ tumor, hepatoblastoma, and medullary thyroid cancer. Frequently associated non-tumor manifestations of these CPS are also included as a guide to increase surgeon awareness. Screening and management guidelines are outlined, and published genetic testing and counseling guidelines are included where available.

Conclusion

Pediatric surgeons play an important role as surgical oncologists and are often the first point of contact for children with solid tumors. In their role of delivering a diagnosis and developing a follow-up and treatment plan as part of a multidisciplinary team, familiarity with common CPS will ensure evidence-based practices are followed, including important principles such as organ preservation and intensified surveillance plans. This review defines and summarizes the CPS associated with common childhood solid tumors encountered by the pediatric surgeon, as well as common non-cancerous disease stigmata that may help guide diagnosis.

Type of study

Summary paper.

Level of evidence

5.

中文翻译：

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儿科实体瘤和相关的癌症易感综合征：检查、管理和监测。APSA 癌症委员会的总结

背景/目的

癌症易感综合征 (CPS) 是一组异质的遗传性疾病，可大大增加患恶性肿瘤的风险。CPS 与儿科外科医生特别相关，因为近 10% 的癌症诊断是由遗传性遗传特征引起的，而 CPS 通常有助于儿童时期的癌症发展。

材料/方法

在英语文献中搜索了有关“儿童癌症易感综合征”的手稿、实践指南和社会声明。在审查了这些手稿并交叉引用了他们的参考书目后，我们创建了表格来总结与手术治疗的儿科实体恶性肿瘤相关的最常见 CPS 的发现。

结果

儿科医生应该意识到 CPS，因为识别其中一种综合征可以完全改变某些肿瘤的治疗，例如 WT。概述了与儿科实体恶性肿瘤相关的最常见的 CPS，重点是儿科外科医生最常遇到的那些：神经母细胞瘤、肾母细胞瘤、肝母细胞瘤和甲状腺髓样癌。这些 CPS 经常相关的非肿瘤表现也被包括在内，作为提高外科医生意识的指南。概述了筛查和管理指南，并在可用的情况下包括已发布的基因检测和咨询指南。

结论

小儿外科医生作为外科肿瘤学家发挥着重要作用，并且通常是实体瘤儿童的第一个接触点。作为多学科团队的一部分，他们在提供诊断和制定随访和治疗计划的角色中，熟悉常见的 CPS 将确保遵循循证实践，包括器官保存和强化监测计划等重要原则。这篇综述定义并总结了儿科外科医生遇到的与常见儿童实体瘤相关的 CPS，以及可能有助于指导诊断的常见非癌性疾病的烙印。

研究类型

总结论文。

证据级别

5.