2021年8月17日
;97(7补充1)
皮肤纤维瘤
地位和建议将生物标志物皮肤纤维瘤临床研究
Deeann沃利斯,阿娜特Stemmer-Rachamimov,莎拉Adsit,布鲁斯Korf,多米尼克•Pichard,Jaishri布莱克利正在,y沙林的故事,代表国际合作
第一次出版2021年7月6日,
DOI: https://doi.org/10.1212/WNL.0000000000012426
Deeann沃利斯
的遗传学(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; 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.
阿娜特Stemmer-Rachamimov
的遗传学(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; 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.
莎拉Adsit
的遗传学(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; 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.
布鲁斯Korf
的遗传学(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; 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.
多米尼克•Pichard
的遗传学(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; 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.
Jaishri布莱克利正在
的遗传学(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; 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.
y沙林的故事
的遗传学(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; 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.
的遗传学(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; 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.
文摘
客观的总结现有的生物标志物数据皮肤纤维神经瘤(cNF)和通知的生物标志物为cNF临床试验设计。
方法cNF工作小组,一个小组反应评价的神经纤维瘤和Schwannomatosis(缰绳)联盟,成立为cNF审查和通知临床试验设计。2018年6月至2020年2月,cNF工作组进行了审查现有的数据基因生物标记的cNF神经纤维瘤病1型的设置。我们还审查标准成功的生物标志物应用在诊所。集团举行了一系列会议开发共识报告。
结果我们系统的文献回顾现有的数据显示为cnf缺乏有效的生物标记。在我们的报告中,我们总结了现有的信号,基因组、转录组、病理和蛋白质组数据相关cNF。最后,我们建议将勘探目标的预测生物标志物纳入临床试验通过生物样本。
结论这些建议的目的是为研究人员和临床医生提供临床试验设计的最佳实践来帮助识别cNF的临床验证生物标记。
术语表
- cNF=
- 皮肤纤维神经瘤;
- mTOR=
- 哺乳动物雷帕霉素靶;
- NF1=
- 神经纤维瘤病1型;
- 缰绳=
- 反应评估神经纤维瘤和Schwannomatosis
脚注
去首页Neurology.org/N为充分披露。资金信息和披露认为作者相关的,如果有的话,年底提供这篇文章。
- 收到了2020年10月9日。
- 接受的最终形式2021年4月2日。
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