Department of Paediatric Haematology and Oncology, University Medical Centre Hamburg-Eppendorf, Hamburg, Germany.
Genetics Unit, ASST Lariana General Hospital, Como, Italy.
Lancet Oncol. 2018 Aug;19(8):e419-e428. doi: 10.1016/S1470-2045(18)30364-4.
Paediatric CNS tumours are the most common cause of childhood cancer-related morbidity and mortality, and improvements in their diagnosis and treatment are needed. New genetic and epigenetic information about paediatric CNS tumours is transforming the field dramatically. For most paediatric CNS tumour entities, subgroups with distinct biological characteristics have been identified, and these characteristics are increasingly used to facilitate accurate diagnoses and therapeutic recommendations. Future treatments will be further tailored to specific molecular subtypes of disease, specific tumour predisposition syndromes, and other biological criteria. Successful biomaterial collection is a key requirement for the application of contemporary methodologies for the validation of candidate prognostic factors, the discovery of new biomarkers, the establishment of appropriate preclinical research models for targeted agents, a quicker clinical implementation of precision medicine, and for other therapeutic uses (eg, for immunotherapies). However, deficits in organisational structures and interdisciplinary cooperation are impeding the collection of high-quality biomaterial from CNS tumours in most centres. Practical, legal, and ethical guidelines for consent, storage, material transfer, biobanking, data sharing, and funding should be established by research consortia and local institutions to allow optimal collection of primary and subsequent tumour tissue, body fluids, and normal tissue. Procedures for the collection and storage of biomaterials and related data should be implemented according to the individual and organisational structures of the local institutions.
小儿中枢神经系统肿瘤是儿童癌症相关发病率和死亡率的最常见原因,需要改进其诊断和治疗方法。关于小儿中枢神经系统肿瘤的新遗传和表观遗传信息正在极大地改变这一领域。对于大多数小儿中枢神经系统肿瘤实体,已经确定了具有不同生物学特征的亚组,这些特征越来越多地用于促进准确的诊断和治疗建议。未来的治疗将进一步针对疾病的特定分子亚型、特定肿瘤易感性综合征和其他生物学标准进行调整。成功采集生物材料是应用当代方法验证候选预后因素、发现新生物标志物、为靶向药物建立适当的临床前研究模型、更快地将精准医学付诸临床应用以及用于其他治疗用途(例如免疫疗法)的关键要求。然而,组织结构和跨学科合作的缺陷阻碍了大多数中心从中枢神经系统肿瘤中收集高质量生物材料。研究联盟和当地机构应制定关于同意、存储、材料转移、生物库、数据共享和资金的实用、法律和伦理准则,以允许最佳地收集原发和后续肿瘤组织、体液和正常组织。应根据当地机构的个人和组织结构实施生物材料和相关数据的采集和存储程序。