Perrino Melissa, Cooke-Barber Jo, Dasgupta Roshni, Geller James I
Department of Pediatrics, Division of Oncology, Cincinnati Children's Hospital Medical Center, University of Cincinnati, United States.
Division of Pediatric General and Thoracic Surgery, Cincinnati Children's Hospital Medical Center, University of Cincinnati, United States.
Semin Pediatr Surg. 2019 Dec;28(6):150858. doi: 10.1016/j.sempedsurg.2019.150858. Epub 2019 Nov 20.
Cancer is one of the leading causes of early mortality for children and adolescents. Identifiable genetic cancer predisposition conditions account for a growing proportion of pediatric and adolescent cancer, likely due to increasing knowledge about various predisposition conditions, more widespread cancer genetic counseling, and available diagnostics. Greater awareness, data-driven surgical intervention and clinical surveillance can help facilitate cancer prevention and early detection at cancer stages more amenable to cure. An extensive literature review of published studies and expert opinion with consensus guidelines are reviewed. Specific syndromes where genetics, imaging and surgical intervention are utilized to benefit affected patients and families are presented. In many tumor predisposition syndromes, the underlying genetic diagnosis is made concurrently, or after, malignancy is identified. Improved recognition of underlying predispositions, along with appropriate surgical interventions and imaging surveillance should lead to increased patient survival.
癌症是儿童和青少年过早死亡的主要原因之一。可识别的遗传性癌症易感性疾病在儿童和青少年癌症中所占比例越来越大，这可能是由于对各种易感性疾病的认识不断增加、癌症遗传咨询更为普遍以及诊断手段的可得性。提高认识、基于数据的手术干预和临床监测有助于在更易于治愈的癌症阶段促进癌症预防和早期发现。本文对已发表研究的广泛文献综述以及具有共识指南的专家意见进行了回顾。介绍了利用遗传学、影像学和手术干预使受影响患者及其家庭受益的特定综合征。在许多肿瘤易感性综合征中，潜在的基因诊断是在确定恶性肿瘤的同时或之后做出的。更好地识别潜在的易感性，以及适当的手术干预和影像学监测应能提高患者生存率。
