Nakano Yoshiko, Rabinowicz Ron, Malkin David
Division of Haematology/Oncology, The Hospital for Sick Children.
Department of Paediatrics, University of Toronto, Toronto, Ontario, Canada.
Curr Opin Pediatr. 2023 Feb 1;35(1):55-62. doi: 10.1097/MOP.0000000000001197. Epub 2022 Nov 10.
Childhood cancer is rare, but it remains the leading cause of disease-related mortality among children 1-14 years of age. As exposure to environmental factors is lower in children, inherited genetic factors become an important player in the cause of childhood cancer. This review highlights the current knowledge and approach for cancer predisposition syndromes in children.
Current literature suggests that 10-18% of paediatric cancer patients have an underlying genetic susceptibility to their disease. With better knowledge and technology, more genes and syndromes are being discovered, allowing tailored treatment and surveillance for the probands and their families.Studies have demonstrated that focused surveillance can detect early malignancies and increase overall survival in several cancer predisposition syndromes. Various approaches have been proposed to refine early tumour detection strategies while minimizing the burden on patients and families. Newer therapeutic strategies are being investigated to treat, or even prevent, tumours in children with cancer predisposition.
This review summarizes the current knowledge about different cancer predisposition syndromes, focusing on the diagnosis, genetic counselling, surveillance and future directions.
儿童癌症较为罕见，但仍是1至14岁儿童疾病相关死亡的主要原因。由于儿童接触环境因素较少，遗传因素在儿童癌症病因中成为重要因素。本综述重点介绍了目前关于儿童癌症易感综合征的知识和方法。
当前文献表明，10%至18%的儿科癌症患者对其疾病存在潜在的遗传易感性。随着知识和技术的进步，更多的基因和综合征被发现，从而能够为患者及其家庭提供个性化的治疗和监测。研究表明，针对性的监测可以在几种癌症易感综合征中检测到早期恶性肿瘤并提高总体生存率。人们提出了各种方法来优化早期肿瘤检测策略，同时尽量减轻患者及其家庭的负担。正在研究更新的治疗策略来治疗甚至预防患有癌症易感倾向的儿童的肿瘤。
本综述总结了目前关于不同癌症易感综合征的知识，重点关注诊断、遗传咨询、监测及未来方向。
