Field Michael, Shanley Susan, Kirk Judy
Familial Cancer Service, Westmead Hospital, Sydney West Cancer Network, Sydney, Australia.
J Paediatr Child Health. 2007 Apr;43(4):219-29. doi: 10.1111/j.1440-1754.2007.01027.x.
Over the last decade there have been rapid advances in our knowledge about the molecular basis of many inherited disorders. Molecular testing is now available for many conditions and may assist in the management of the individual and their extended family. One area where the use of genetic testing has expanded rapidly is in the area of hereditary cancer, particularly in relation to hereditary breast/ovarian and hereditary bowel cancer syndromes. Although individually uncommon, there are also a number of rare cancer susceptibility syndromes affecting the paediatric population, where genetic testing may assist in patient management. The following review is a practical guide for clinicians about the role of genetic testing for some rare tumour susceptibilities pertaining to children, including retinoblastoma, familial adenomatous polyposis, juvenile polyposis syndromes, Von Hippel-Lindau disease, multiple endocrine neoplasia, Li-Fraumeni syndrome and neurofibromatosis. We concentrate on disorders where germline mutation testing is routinely available and influences patient management. We have placed specific emphasis on the paediatric presentation of these disorders and provide some guidance to clinicians about surveillance protocols in affected individuals and 'at-risk' family members.
在过去十年中，我们对许多遗传性疾病分子基础的认识取得了迅速进展。现在许多疾病都可以进行分子检测，这可能有助于对个体及其大家庭进行管理。基因检测应用迅速扩展的一个领域是遗传性癌症领域，特别是与遗传性乳腺癌/卵巢癌和遗传性肠癌综合征相关的领域。虽然这些疾病个体发病率不高，但也有一些影响儿童群体的罕见癌症易感性综合征，基因检测可能有助于患者管理。以下综述是一份实用指南，供临床医生了解基因检测在一些与儿童相关的罕见肿瘤易感性方面的作用，包括视网膜母细胞瘤、家族性腺瘤性息肉病、幼年性息肉病综合征、冯·希佩尔-林道病、多发性内分泌腺瘤病、李-佛美尼综合征和神经纤维瘤病。我们专注于那些常规可进行种系突变检测并影响患者管理的疾病。我们特别强调了这些疾病在儿科的表现，并为临床医生提供了一些关于对受影响个体和“高危”家庭成员进行监测方案的指导。
