儿童癌症患者肿瘤易感性综合征临床筛查工具的验证（TuPS）：一项前瞻性、观察性、多中心研究方案
Validation of a clinical screening instrument for tumour predisposition syndromes in patients with childhood cancer (TuPS): protocol for a prospective, observational, multicentre study.
作者信息
Postema Floor A M, Hopman Saskia M J, de Borgie Corianne A J M, Hammond Peter, Hennekam Raoul C, Merks Johannes H M, Aalfs Cora M, Anninga Jakob K, Berger Lieke Pv, Bleeker Fonnet E, de Bont Eveline Sjm, de Borgie Corianne Ajm, Dommering Charlotte J, van Eijkelenburg Natasha Ka, Hammond Peter, Hennekam Raoul C, van den Heuvel-Eibrink Marry M, Hopman Saskia Mj, Jongmans Marjolijn Cj, Kors Wijnanda A, Letteboer Tom Gw, Loeffen Jan Lcm, Merks Johannes Hm, Olderode-Berends Maran Jw, Postema Floor Am, Wagner Anja
机构信息
Department of Paediatric Oncology, Emma Children's Hospital, Academic Medical Centre, Amsterdam, The Netherlands.
Department of Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands.
出版信息
BMJ Open. 2017 Jan 20;7(1):e013237. doi: 10.1136/bmjopen-2016-013237.
INTRODUCTION
Recognising a tumour predisposition syndrome (TPS) in patients with childhood cancer is of significant clinical relevance, as it affects treatment, prognosis and facilitates genetic counselling. Previous studies revealed that only half of the known TPSs are recognised during standard paediatric cancer care. In current medical practice it is impossible to refer every patient with childhood cancer to a clinical geneticist, due to limited capacity for routine genetic consultation. Therefore, we have developed a screening instrument to identify patients with childhood cancer with a high probability of having a TPS. The aim of this study is to validate the clinical screening instrument for TPS in patients with childhood cancer.
METHODS AND ANALYSIS
This study is a prospective nationwide cohort study including all newly diagnosed patients with childhood cancer in the Netherlands. The screening instrument consists of a checklist, two- and three-dimensional photographic series of the patient. 2 independent clinical geneticists will assess the content of the screening instrument. If a TPS is suspected based on the instrument data and thus further evaluation is indicated, the patient will be invited for full genetic consultation. A negative control group consists of 20% of the patients in whom a TPS is not suspected based on the instrument; they will be randomly invited for full genetic consultation. Primary outcome measurement will be sensitivity of the instrument.
ETHICS AND DISSEMINATION
The Medical Ethical Committee of the Academic Medical Centre stated that the Medical Research Involving Human Subjects Act does not apply to this study and that official approval of this study by the Committee was not required. The results will be offered for publication in peer-reviewed journals and presented at International Conferences on Oncology and Clinical Genetics. The clinical data gathered in this study will be available for all participating centres.
TRIAL REGISTRATION NUMBER
NTR5605.
引言
识别儿童癌症患者的肿瘤易感性综合征（TPS）具有重要的临床意义，因为它会影响治疗、预后并有助于进行遗传咨询。先前的研究表明，在标准的儿科癌症护理过程中，只有一半的已知TPS能被识别出来。在当前的医疗实践中，由于常规遗传咨询的能力有限，不可能将每一位儿童癌症患者都转诊给临床遗传学家。因此，我们开发了一种筛查工具，以识别极有可能患有TPS的儿童癌症患者。本研究的目的是验证用于儿童癌症患者TPS的临床筛查工具。
方法与分析
本研究是一项全国性的前瞻性队列研究，纳入了荷兰所有新诊断的儿童癌症患者。筛查工具包括一份清单、患者的二维和三维照片系列。两名独立的临床遗传学家将评估筛查工具的内容。如果根据工具数据怀疑患有TPS，从而需要进一步评估，则会邀请患者进行全面的遗传咨询。一个阴性对照组由20%根据工具未怀疑患有TPS的患者组成；他们将被随机邀请进行全面的遗传咨询。主要结局指标将是该工具的敏感性。
伦理与传播
学术医疗中心医学伦理委员会表示，涉及人类受试者的医学研究法案不适用于本研究，该研究无需委员会的正式批准。研究结果将提交给同行评审期刊发表，并在国际肿瘤学和临床遗传学会议上展示。本研究收集的临床数据将可供所有参与中心使用。
试验注册号
NTR5605。
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