儿童遗传性肿瘤综合征的研究进展

Recent advances in pediatric hereditary neoplastic syndromes

遗传性肿瘤综合征是由于种系基因突变导致个体具有肿瘤易感倾向的一类疾病,约占所有儿童肿瘤的5%-10%。因其具有遗传性及显著的肿瘤易感风险,故临床管理与一般肿瘤患者不同,主要体现于对存在种系突变患者及其家庭成员实行易感肿瘤的长期监测,以便早期发现,合理治疗。遗传学机制的阐明是疾病临床管理的重要分子基础。文章从疾病的遗传学机制及临床管理两方面对遗传性肿瘤综合征进行综述。

Hereditary neoplastic syndromes are a group of diseases characterized by germ-line gene mutation related susceptibility to specific cancers,accounting for approximately 5%-10% of all pediatric tumors.As a result of its inheritance and remarkable susceptibility to specific cancers,clinical management strategies are different from other tumor patients that mainly reflect targeted efforts in cancer surveillance for the probands and their family members who have inherited a gene mutation.The elucidation of genetic mechanism is the molecular basis of clinical management.This review will focus on genetical mechanism and clinical management of hereditary cancer syndromes.