识别儿科癌症倾向综合征的挑战:国际SCOPE调查和SIOPE专家共识建议
Jakica Ćavar Pavić1,2, Noelle Cullinan3, Marjolijn Jongmans4,5
1Division of Paediatric Haematology and Oncology, Department of Paediatrics, University Children's Hospital Inselspital, Bern, Switzerland.
癌症倾向综合征 (CPS) 诊断不足,许多临床医生缺乏对鉴定和遗传解释的信心. 改善培训和查指南对于更好的患者护理至关重要.
科学领域:
- 在瘤学瘤学.
- 遗传学 是一个遗传学.
- 临床实践 临床实践
背景情况:
- 癌症倾向综合征 (CPS) 增加了遗传性癌症的风险,但往往被诊断不足.
- 早期识别和监测可以改善CPS患者的治疗结果.
- 临床实践的差距阻碍了及时的CPS诊断和管理.
研究的目的:
- 评估欧洲临床医生对癌症倾向综合征 (CPS) 的观点.
- 在儿科瘤专业人员中识别CPS识别和护理的障碍.
- 制定改善CPS诊断和管理的建议.
主要方法:
- 这是一项由22个欧洲国家的185名儿科瘤学家组成的三部分横截面调查.
- 一个经过修改的Delphi共识过程,涉及SIOP欧洲宿主基因组工作组成员.
- 对临床医生的信心,障碍和CPS护理提议改进的分析.
主要成果:
- 超过40%的临床医生表示对CPS相关任务的信心很低,特别是家庭咨询和遗传解释.
- 缺少查指南 (57%) 和结果解释困难 (35.1%) 是主要障碍.
- 获得遗传学家和专业诊所的机会与更高的信心相关;普遍查工具的使用率低 (42.3%).
结论:
- 建议加强临床医师培训,结构化查整合和以患者为中心的教育材料.
- 跨学科的合作和系统的查是改善CPS护理的关键.
- 解决已识别的障碍可以显著提高遗传性癌症综合征的诊断和管理.
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