Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio 45229, USA.
Pediatr Blood Cancer. 2012 Jan;58(1):85-9. doi: 10.1002/pbc.23283. Epub 2011 Aug 17.
Pediatric cancer survivors are at risk for multiple late effects including second malignancies, some a direct consequence of genetic susceptibility. Appropriate surveillance and management for the survivor and at-risk family members can often be established if the genetic predisposition is recognized and/or diagnosed. Numerous published guidelines outline which adult cancer patients and survivors should be referred for hereditary cancer risk assessment. In the pediatric oncology setting, minimal guidance exists for healthcare providers to determine which patients and families to refer for genetic evaluation.
The aim of this project was to determine what percentage of childhood cancer survivors are appropriate for further evaluation in a hereditary cancer program or genetics clinic and characterize indications for referral. Participants included pediatric cancer survivors seen for follow-up in a large cancer survivor center. Medical and family histories were obtained and reviewed by a certified genetic counselor at the survivor's annual visit. Eligibility for genetics referral was determined based on personal/family medical history and published literature.
Of 370 survivors of childhood cancer, 109 (29%) were considered eligible for genetics follow-up or referral. Family history of cancer is the most prevalent reason identified for eligibility for further genetics evaluation (61%) followed by tumor type (18%), medical history (16%), and family history of another condition (6%).
This project provides evidence that inclusion of genetic evaluation is feasible and relevant in the care of childhood cancer survivors. Further study is warranted to determine optimal timing and clinical utility of this multidisciplinary and family-centered approach.
儿科癌症幸存者面临多种晚期效应的风险，包括继发性恶性肿瘤，其中一些是遗传易感性的直接后果。如果识别和/或诊断出遗传易感性，通常可以为幸存者和有风险的家庭成员建立适当的监测和管理。许多已发表的指南概述了哪些成年癌症患者和幸存者应转介进行遗传性癌症风险评估。在儿科肿瘤学环境中，医疗保健提供者很少有指导意见来确定应将哪些患者和家庭转介进行基因评估。
本项目的目的是确定有多少比例的儿童癌症幸存者适合在遗传性癌症计划或遗传诊所中进行进一步评估，并描述转介的指征。参与者包括在大型癌症幸存者中心接受随访的儿科癌症幸存者。在幸存者的年度就诊时，由经过认证的遗传咨询师获取并审查其医疗和家族病史。根据个人/家族病史和已发表的文献确定是否有资格进行遗传咨询。
在 370 名儿童癌症幸存者中，有 109 名（29%）被认为适合进行遗传学随访或转介。癌症家族史是确定进一步遗传学评估资格的最常见原因（61%），其次是肿瘤类型（18%）、病史（16%）和另一种疾病的家族史（6%）。
本项目提供了证据，表明在儿童癌症幸存者的护理中纳入遗传评估是可行且相关的。需要进一步研究以确定这种多学科和以家庭为中心方法的最佳时机和临床实用性。
