Bleeker Fonnet E, Hopman Saskia M J, Merks Johannes H M, Aalfs Cora M, Hennekam Raoul C M
Department of Clinical Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
Department of Paediatric Oncology, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
Neuropediatrics. 2014 Jun;45(3):137-61. doi: 10.1055/s-0034-1368116. Epub 2014 Feb 17.
(Brain) tumors are usually a disorder of aged individuals. If a brain tumor occurs in a child, there is a possible genetic susceptibility for this. Such genetic susceptibilities often show other signs and symptoms. Therefore, every child with a brain tumor should be carefully evaluated for the presence of a "tumor predisposition syndrome." Here, we provide an overview of the various central nervous system tumors that occur in children with syndromes and of the various syndromes that occur in children with brain tumor. Our aim is to facilitate recognition of syndromes in children with a brain tumor and early diagnosis of brain tumors in children with syndromes. Diagnosing tumor predisposition syndromes in children may have important consequences for prognosis, treatment, and screening for subsequent malignancies and nontumor manifestations. We discuss pitfalls in clinical and molecular diagnoses, and the consequences of diagnosing a hereditary disorder for family members. Our improved knowledge of cancer etiology is increasingly translated into management strategies in syndromes in general and will likely lead in the near future to personalized therapeutic approaches for tumor predisposition syndromes.
脑肿瘤通常是老年人的一种疾病。如果儿童发生脑肿瘤，可能存在遗传易感性。这种遗传易感性常伴有其他体征和症状。因此，每个患脑肿瘤的儿童都应仔细评估是否存在“肿瘤易感综合征”。在此，我们概述了患有综合征的儿童中发生的各种中枢神经系统肿瘤，以及患有脑肿瘤的儿童中出现的各种综合征。我们的目的是促进对患脑肿瘤儿童综合征的识别以及对患有综合征儿童脑肿瘤的早期诊断。诊断儿童肿瘤易感综合征可能对预后、治疗以及后续恶性肿瘤和非肿瘤表现的筛查产生重要影响。我们讨论临床和分子诊断中的陷阱，以及诊断遗传性疾病对家庭成员的影响。我们对癌症病因学的深入了解正越来越多地转化为一般综合征的管理策略，并可能在不久的将来导致针对肿瘤易感综合征的个性化治疗方法。
