Tischkowitz Marc, Rosser Elisabeth
North East Thames Regional Genetics Service, Clinical and Molecular Genetics Unit, Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK.
Eur J Cancer. 2004 Nov;40(16):2459-70. doi: 10.1016/j.ejca.2004.06.005.
Over recent years significant molecular advances have led to a better understanding of the genetics of both syndromic and non-syndromic paediatric cancers. In addition many hereditary cancer predisposition syndromes are now recognised, some of which have implications for children in affected families. Improvements in gene mutation screening will increase the sensitivity, accuracy and therefore the applicability of genetic testing in these conditions. This review will deal with four main areas pertaining to paediatric cancer genetics (i) genetic aspects of some non-syndromic paediatric cancers (ii) paediatric cancer predisposition syndromes, (iii) the management of children in families with predominantly adult- onset cancer predisposition syndromes and (iv) special ethical, legal, social and psychological considerations in the management of children, with actual or possible genetic cancer predisposition. Current concepts and controversies in the rapidly changing field of paediatric cancer genetics will be examined in detail and the application of existing guidelines and their limitations will be discussed.
近年来，重大的分子进展使人们对综合征性和非综合征性儿童癌症的遗传学有了更深入的了解。此外，现在已认识到许多遗传性癌症易感性综合征，其中一些对受影响家庭中的儿童有影响。基因突变筛查的改进将提高基因检测在这些情况下的敏感性、准确性，从而提高其适用性。本综述将涉及与儿童癌症遗传学相关的四个主要领域：（i）一些非综合征性儿童癌症的遗传学方面；（ii）儿童癌症易感性综合征；（iii）主要患有成人发病癌症易感性综合征的家庭中儿童的管理；（iv）对患有实际或可能的遗传性癌症易感性的儿童进行管理时特殊的伦理、法律、社会和心理考虑。将详细探讨儿童癌症遗传学快速变化领域中的当前概念和争议，并讨论现有指南的应用及其局限性。
