Greer Mary-Louise C
Department of Diagnostic Imaging, The Hospital for Sick Children, Department of Medical Imaging, University of Toronto, 555 University Ave., Toronto, ON, M5G 1X8, Canada.
Pediatr Radiol. 2018 Aug;48(9):1364-1375. doi: 10.1007/s00247-018-4113-0. Epub 2018 Aug 4.
Pediatric cancer predisposition syndromes comprise a group of diseases characterized by specific tumors or a concomitance of tumors in infants, children and adolescents, suggesting a genetic cancer susceptibility condition. Most but not all have germline pathogenic variants on genetic testing. For some children with cancer predisposition syndromes, this diagnosis is based on their own or a family history of related neoplasms, or associated clinical manifestations. These tumors have variable incidence and age of onset. Imaging encompasses investigation in symptomatic children for diagnosis, staging and monitoring for treatment response and metastatic disease, as well as surveillance for primary tumors in asymptomatic children. In this review the author focuses on the role of surveillance imaging in childhood cancer predisposition syndromes, whole-body magnetic resonance imaging (whole-body MRI) in particular. Diagnosis and staging of specific tumors are addressed elsewhere in this series. The benefits of surveillance imaging include early detection and improved outcomes and are still being established for a number of cancer predisposition syndromes. The benefits must be weighed against risks including potential technique-related issues relating to sedation or contrast agents, false-positive imaging findings, and cost - both financial and psychosocial. The author discusses general principles for whole-body MRI interpretation along with findings in specific syndromes where whole-body MRI screening is recommended, such as Li-Fraumeni syndrome.
儿童癌症易感综合征包括一组疾病，其特征为婴儿、儿童和青少年出现特定肿瘤或多种肿瘤并发，提示存在遗传性癌症易感性状况。大多数（但并非全部）在基因检测时存在胚系致病性变异。对于一些患有癌症易感综合征的儿童，该诊断基于其自身或家族相关肿瘤病史，或相关临床表现。这些肿瘤的发病率和发病年龄各不相同。影像学检查包括对有症状儿童进行诊断、分期以及监测治疗反应和转移性疾病，同时也包括对无症状儿童的原发性肿瘤进行监测。在本综述中，作者重点关注监测影像学在儿童癌症易感综合征中的作用，尤其是全身磁共振成像（全身MRI）。特定肿瘤的诊断和分期在本系列的其他地方进行阐述。监测影像学的益处包括早期发现和改善预后，并且在许多癌症易感综合征中仍在不断确立。必须权衡这些益处与风险，风险包括与镇静或造影剂相关的潜在技术问题、假阳性影像学结果以及经济和心理社会成本。作者讨论了全身MRI解读的一般原则以及在推荐进行全身MRI筛查的特定综合征（如李-佛美尼综合征）中的发现。
