机构：[1]Beijing Neurosurgical Institute, Capital Medical University, Beijing, China研究所北京市神经外科研究所首都医科大学附属天坛医院[2]Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, Beijing, China重点科室诊疗科室神经外科神经外科首都医科大学附属天坛医院[3]China National Clinical Research Center for Neurological Diseases, Beijing, China[4]Center of Brain Tumor, Beijing Institute for Brain Disorders, Beijing, China
Background: Chromosome 1p/19q codeletion is increasingly being recognized as the crucial genetic marker for glioma patients and have been included in WHO classification of glioma in 2016. Fluorescent in situ hybridization, a widely used method in detecting 1p/19q status, has some methodological limitations which might influence the clinical management for doctors. Here, we attempted to explore an RNA sequencing computational method to detect 1p/19q status. Methods: We included 692 samples with 1p/19q status information from TCGA cohort as training set and 222 samples with 1p/19q status information from REMBRANDT cohort as validation set. We reviewed and compared five tools: TSPairs, GSVA, PAM, Caret, smoother, with respect to their accuracy, sensitivity and specificity. Results: In TCGA cohort, the GSVA method showed the highest accuracy (98.4%) in predicting 1p/19q status (sensitivity=95.5%, specificity=99.6%) and smoother method showed the second-highest accuracy (accuracy=97.8%, sensitivity=96.4%, specificity=98.3%). While in REMBRANDT cohort, smoother method exhibited the highest accuracy (98.6%) (sensitivity=96.7%, specificity=98.9%) in 1p/19q status prediction. Conclusions: Our independent assessment of five tools revealed that smoother method was selected as the most stable and accurate method in predicting 1p/19q status. This method could be regarded as a potential alternative method for clinical practice in future.
基金：
National Key Research and Development Plan [2016YFC0902500]; Beijing Science and Technology Plan [Z141100000214009]; Capital Medical Development Research Fund [2016-1-1072]; Beijing Municipal Administration of Hospitals Clinical Medicine Development of Special
第一作者机构：[1]Beijing Neurosurgical Institute, Capital Medical University, Beijing, China
通讯作者：
通讯机构：[1]Beijing Neurosurgical Institute, Capital Medical University, Beijing, China[2]Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, Beijing, China[3]China National Clinical Research Center for Neurological Diseases, Beijing, China[4]Center of Brain Tumor, Beijing Institute for Brain Disorders, Beijing, China
推荐引用方式(GB/T 7714)：
Wang Zhi-liang,Zhao Zheng,Wang Zheng,et al.Predicting chromosome 1p/19q codeletion by RNA expression profile: a comparison of current prediction models[J].AGING-US.2019,11(3):974-985.doi:10.18632/aging.101795.
APA：
Wang, Zhi-liang,Zhao, Zheng,Wang, Zheng,Zhang, Chuan-bao&Jiang, Tao.(2019).Predicting chromosome 1p/19q codeletion by RNA expression profile: a comparison of current prediction models.AGING-US,11,(3)
MLA：
Wang, Zhi-liang,et al."Predicting chromosome 1p/19q codeletion by RNA expression profile: a comparison of current prediction models".AGING-US 11..3(2019):974-985
