纳入皮肤神经纤维瘤生物标志物的临床研究现状和建议。
Status and Recommendations for Incorporating Biomarkers for Cutaneous Neurofibromas Into Clinical Research.
机构信息
From the Department of Genetics (D.W., B.K.), University of Alabama at Birmingham; Department of Pathology (A.S.-R.), Massachusetts General Hospital, Harvard Medical School, Boston; Department of Nephrology (S.A.), Wyoming Medical Center, Casper; National Institute of Arthritis and Musculoskeletal and Skin Diseases (D.P.), NIH, Bethesda, MD; Department of Neurology (J.B.), Johns Hopkins University School of Medicine, Baltimore, MD; and Department of Dermatology (K.Y.S.), Stanford University Medical Center, Redwood City, CA.
出版信息
Neurology. 2021 Aug 17;97(7 Suppl 1):S42-S49. doi: 10.1212/WNL.0000000000012426. Epub 2021 Jul 6.
OBJECTIVE
To summarize existing biomarker data for cutaneous neurofibroma (cNF) and to inform the incorporation of biomarkers into clinical trial design for cNFs.
METHODS
The cNF working group, a subgroup of the Response Evaluation in Neurofibromatosis and Schwannomatosis (REiNS) consortium, was formed to review and inform clinical trial design for cNFs. Between June 2018 and February 2020, the cNF working group performed a review of existing data on genetic biomarkers for cNFs in the setting of neurofibromatosis type 1. We also reviewed criteria for successful biomarker application in the clinic. The group then held a series of meetings to develop a consensus report.
RESULTS
Our systematic literature review of existing data revealed a lack of validated biomarkers for cNFs. In our report, we summarize the existing signaling, genomic, transcriptomic, histopathologic, and proteomic data relevant to cNF. Finally, we make recommendations for incorporating exploratory aims for predictive biomarkers into clinical trials through biobanking samples.
CONCLUSION
These recommendations are intended to provide both researchers and clinicians with best practices for clinical trial design to aid in the identification of clinically validated biomarkers for cNF.
目的
总结皮肤神经纤维瘤（cNF）的现有生物标志物数据，并为将生物标志物纳入 cNF 临床试验设计提供信息。
方法
cNF 工作组是神经纤维瘤病和雪旺细胞瘤反应评估（REiNS）联盟的一个分组，成立该工作组是为了审查和为 cNF 的临床试验设计提供信息。在 2018 年 6 月至 2020 年 2 月期间，cNF 工作组对 1 型神经纤维瘤病中 cNF 的遗传生物标志物的现有数据进行了审查。我们还审查了成功将生物标志物应用于临床的标准。然后，该小组举行了一系列会议以制定一份共识报告。
结果
我们对现有数据的系统文献回顾显示，缺乏经过验证的 cNF 生物标志物。在我们的报告中，我们总结了与 cNF 相关的现有信号、基因组、转录组、组织病理学和蛋白质组学数据。最后，我们建议通过生物样本库为预测性生物标志物纳入临床试验的探索性目标提供建议。
结论
这些建议旨在为研究人员和临床医生提供临床试验设计的最佳实践，以帮助确定经过临床验证的 cNF 生物标志物。
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