Center for Children's Cancer Research and Department of Pediatrics, University of Utah, Salt Lake City, Utah 84112, USA.
Pediatr Blood Cancer. 2013 Aug;60(8):1247-52. doi: 10.1002/pbc.24555. Epub 2013 Apr 26.
Hereditary cancer syndromes in children and adolescents are becoming more recognized in the field of pediatric hematology/oncology. A recent workshop held at the American Society of Pediatric Hematology/Oncology (ASPHO) 2012 Annual Meeting included several interactive sessions related to specific familial cancer syndromes, genetic testing and screening, and ethical issues in caring for families with inherited cancer risk. This review highlights the workshop presentations, including a brief background about pediatric cancer predisposition syndromes and the importance of learning about them for the practicing pediatric hematologists/oncologists. This is followed by a brief summary of the newly described cancer predisposition syndromes including Rhabdoid Tumor Predisposition Syndrome, Hereditary Paragangliomas and Pheochromocytoma Syndrome, and Familial Pleuropulmonaryblastoma Tumor Predisposition (DICER1) Syndrome. The next section covers genetic testing and screening for pediatric cancer predisposition syndromes. Ethical issues are also discussed including preimplantation genetic diagnosis or testing (PGD/PGT), suspicious lesions found on tumor screening, and incidental mutations discovered by whole genome sequencing. Finally, the perspective of a family with Li-Fraumeni Syndrome is shared.
遗传性癌症综合征在儿童和青少年中越来越受到儿科血液学/肿瘤学领域的重视。最近在美国儿科学会血液学/肿瘤学（ASPHO）2012 年年会举行的一次研讨会上，包括几个与特定家族性癌症综合征、基因检测和筛查以及遗传性癌症风险家族护理中的伦理问题相关的互动会议。这篇综述强调了研讨会的介绍，包括简要介绍儿科癌症易感性综合征的背景以及了解这些疾病对儿科血液学家/肿瘤学家的重要性。其次简要总结了新描述的癌症易感性综合征，包括横纹肌肉瘤易感性综合征、遗传性副神经节瘤和嗜铬细胞瘤综合征以及家族性肺胸膜胚细胞瘤易感性（DICER1）综合征。下一节涵盖了儿科癌症易感性综合征的基因检测和筛查。还讨论了伦理问题，包括植入前遗传学诊断或检测（PGD/PGT）、肿瘤筛查中发现的可疑病变以及全基因组测序发现的偶然突变。最后，分享了一个患有 Li-Fraumeni 综合征的家庭的观点。
