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Effective identification of cancer predisposition syndromes in children with cancer employing a questionnaire
Familial Cancer ( IF 1.8 ) Pub Date : 2021-03-02 , DOI: 10.1007/s10689-021-00233-5
Miriam Schwermer 1 , Astrid Behnert 1 , Beate Dörgeloh 1 , Tim Ripperger 2 , Christian P Kratz 1, 3
Affiliation  

Approximately 10% of children with newly diagnosed cancer have a cancer predisposition syndrome (CPS). The optimal diagnostic approach to identify them among children diagnosed with cancer is unknown. Objective: To determine whether the use of a one-page questionnaire can improve the CPS diagnosis among children with an oncologic condition. Design: Comparative effectiveness research. Setting: Referral center for children with cancer. Results: 739 children diagnosed with an oncologic condition between 2012 and 2019. All children with a newly diagnosed oncologic condition presenting to Hannover Medical School between January 1st 2017 and December 31st 2019 were prospectively evaluated with a CPS questionnaire. Children in whom the questionnaire suggested the need of a genetic workup were further evaluated. All children diagnosed with an oncologic condition between January 1st 2012 and December 31st 2016 served as control. The CPS diagnoses established during both time periods were evaluated and compared. A CPS was diagnosed in 27 out of 287 children (9.4%) during the questionnaire period versus 24 out of 452 children (5.3%) during the control period (P = 0.032). Conclusion: The CPS questionnaire appears to significantly improve the diagnosis of children with CPS among children with a newly diagnosed oncologic condition.



中文翻译:

使用问卷有效识别癌症儿童的癌症易感综合征

大约 10% 的新诊断癌症儿童患有癌症易感综合征 (CPS)。在被诊断患有癌症的儿童中识别它们的最佳诊断方法尚不清楚。目的:确定使用一页问卷是否可以改善患有肿瘤疾病的儿童的 CPS 诊断。设计:比较有效性研究。地点:癌症儿童转诊中心。结果: 739 名儿童在 2012 年至 2019 年期间被诊断患有肿瘤疾病。所有在 2017 年 1 月 1 日至 2019 年 12 月 31 日期间就诊于汉诺威医学院的新诊断肿瘤疾病儿童均使用 CPS 问卷进行前瞻性评估。进一步评估了问卷表明需要进行基因检查的儿童。所有在 2012 年 1 月 1 日至 2016 年 12 月 31 日期间被诊断患有肿瘤疾病的儿童作为对照。对两个时间段内建立的 CPS 诊断进行了评估和比较。在问卷调查期间,287 名儿童中有 27 人(9.4%)被诊断出患有 CPS,而在对照期间,452 名儿童中有 24 人(5.3%)被诊断出患有 CPS (P  = 0.032)。结论:CPS 问卷似乎显着提高了在新诊断的肿瘤疾病儿童中对 CPS 儿童的诊断。

更新日期:2021-03-02
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