Paediatric Haematology and Oncology, Hannover Medical School, Hannover, Germany.
Princess Máxima Center for Paediatric Oncology, Utrecht, Netherlands; Department of Genetics, University Medical Center Utrecht, Princess Máxima Center for Paediatric Oncology, Utrecht, Netherlands.
Lancet Child Adolesc Health. 2021 Feb;5(2):142-154. doi: 10.1016/S2352-4642(20)30275-3.
Childhood malignancies are rarely related to known environmental exposures, and it has become increasingly evident that inherited genetic factors play a substantial causal role. Large-scale sequencing studies have shown that approximately 10% of children with cancer have an underlying cancer predisposition syndrome. The number of recognised cancer predisposition syndromes and cancer predisposition genes are constantly growing. Imaging and laboratory technologies are improving, and knowledge of the range of tumours and risk of malignancy associated with cancer predisposition syndromes is increasing over time. Consequently, surveillance measures need to be constantly adjusted to address these new findings. Management recommendations for individuals with pathogenic germline variants in cancer predisposition genes need to be established through international collaborative studies, addressing issues such as genetic counselling, cancer prevention, cancer surveillance, cancer therapy, psychological support, and social-ethical issues. This Review represents the work by a group of experts from the European Society for Paediatric Oncology (SIOPE) and aims to summarise the current knowledge and define future research needs in this evolving field.
儿童恶性肿瘤很少与已知的环境暴露有关，越来越明显的是，遗传因素在其中起着重要的因果作用。大规模测序研究表明，约 10%的癌症患儿存在潜在的癌症易感性综合征。已识别的癌症易感性综合征和癌症易感性基因的数量在不断增加。成像和实验室技术正在不断改进，随着时间的推移，人们对与癌症易感性综合征相关的肿瘤范围和恶性肿瘤风险的认识也在不断增加。因此，监测措施需要不断调整，以应对这些新发现。需要通过国际合作研究来制定针对癌症易感性基因种系致病性变异个体的管理建议，解决遗传咨询、癌症预防、癌症监测、癌症治疗、心理支持和社会伦理问题等问题。这篇综述代表了欧洲小儿肿瘤学会（SIOPE）专家组的工作，旨在总结这一不断发展领域的现有知识，并确定未来的研究需求。
