Guillem José G, Wood William C, Moley Jeffrey F, Berchuck Andrew, Karlan Beth Y, Mutch David G, Gagel Robert F, Weitzel Jeffrey, Morrow Monica, Weber Barbara L, Giardiello Francis, Rodriguez-Bigas Miguel A, Church James, Gruber Stephen, Offit Kenneth
Department of Surgery, Memorial Sloan-Kettering Cancer Center, 1275 York Avenue, Room C-1077, New York, New York 10021, USA.
Ann Surg Oncol. 2006 Oct;13(10):1296-321. doi: 10.1245/s10434-006-9036-6.
A significant portion of cancers are accounted for by a heritable component, which has increasingly been linked to mutations in specific genes. Clinical interventions have been formulated for mutation carriers within affected families. The primary interventions for mutation carriers of highly penetrant syndromes are surgical.
The American Society of Clinical Oncology and the Society of Surgical Oncology formed a task force charged with presenting an educational symposium on surgical management of hereditary cancer syndromes at annual society meetings, and this resulted in a position paper on this topic. The content of both the symposium and the position paper was developed as a consensus statement.
This article addresses hereditary breast, colorectal, ovarian/endometrial, and multiple endocrine neoplasias. A brief introduction on the genetics and natural history of each disease is provided, followed by detailed descriptions of modern surgical approaches, clinical and genetic indications, timing of prophylactic surgery, and the efficacy of surgery (when known). Although several recent reviews have addressed the role of genetic testing for cancer susceptibility, this article focuses on the issues surrounding surgical technique, timing, and indications for surgical prophylaxis.
Risk-reducing surgical treatment of hereditary cancer is a complex undertaking. It requires a clear understanding of the natural history of the disease, realistic appreciation of the potential benefits and risks of these procedures in potentially otherwise healthy individuals, and the long-term sequelae of such interventions, as well as the individual patient's and family's perceptions of surgical risk and anticipated benefit.
相当一部分癌症是由遗传因素引起的，这越来越多地与特定基因的突变有关。针对受影响家庭中的突变携带者已经制定了临床干预措施。对于高外显率综合征的突变携带者，主要干预措施是手术。
美国临床肿瘤学会和外科肿瘤学会成立了一个特别工作组，负责在学会年会上举办一次关于遗传性癌症综合征外科治疗的教育研讨会，由此产生了一篇关于该主题的立场文件。研讨会和立场文件的内容均作为共识声明制定。
本文涉及遗传性乳腺癌、结直肠癌、卵巢癌/子宫内膜癌和多发性内分泌肿瘤。文章首先简要介绍了每种疾病的遗传学和自然史，并详细描述了现代手术方法、临床和遗传指征、预防性手术的时机以及手术疗效（已知时）。尽管最近有几篇综述探讨了癌症易感性基因检测的作用，但本文重点关注围绕手术技术、时机和预防性手术指征的问题。
遗传性癌症的降低风险手术治疗是一项复杂的工作。它需要清楚了解疾病的自然史，切实认识到这些手术对潜在健康个体可能带来的益处和风险，以及此类干预的长期后果，还要了解患者个体及其家庭对手术风险和预期益处的看法。
