So-Woon Kim1, Bong Jin Park2, Hyun-Soo Kim3, Kiyong Na4. 1. Department of Pathology, Kyung Hee University Hospital, Kyung Hee University College of Medicine, Seoul, Republic of Korea. 2. Department of Neurosurgery, Kyung Hee University Hospital, Kyung Hee University College of Medicine, Seoul, Republic of Korea. 3. Department of Pathology and Translational Genomics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea raripapa@gmail.com hyun-soo.kim@samsung.com. 4. Department of Pathology, Kyung Hee University Hospital, Kyung Hee University College of Medicine, Seoul, Republic of Korea; raripapa@gmail.com hyun-soo.kim@samsung.com.
Abstract
BACKGROUND/AIM: The application of Oncomine Comprehensive Assay v3 (OCAv3) panel in diffuse gliomas (DGs) remains unknown. We investigated the utility of OCAv3-based next-generation sequencing (NGS) in isocitrate dehydrogenase (IDH)-mutated grade II-III DGs. PATIENTS AND METHODS: We collected 20 tissue samples obtained from IDH-mutated grade II-III DG patients and performed OCAv3-based NGS. RESULTS: By conventional molecular methods, the 20 DGs were classified into seven astrocytomas and 13 oligodendrogliomas. OCAv3 detected all mutations identified in these samples using the conventional methods. The results were highly corroborated by the known mutations in each group. Clustered copy number loss of genes located at the 1p and 19q loci was detected in all 13 oligodendroglioma cases, which harbor the 1p/19q codeletion. CONCLUSION: The application of OCAv3-based NGS will improve diagnostic accuracy in DG, with the most beneficial aspects expected in detecting copy number alterations to identify the 1p/19q codeletion correctly. Copyright
BACKGROUND/AIM: The application of Oncomine Comprehensive Assay v3 (OCAv3) panel in diffuse gliomas (DGs) remains unknown. We investigated the utility of OCAv3-based next-generation sequencing (NGS) in isocitrate dehydrogenase (IDH)-mutated grade II-III DGs. PATIENTS AND METHODS: We collected 20 tissue samples obtained from IDH-mutated grade II-III DG patients and performed OCAv3-based NGS. RESULTS: By conventional molecular methods, the 20 DGs were classified into seven astrocytomas and 13 oligodendrogliomas. OCAv3 detected all mutations identified in these samples using the conventional methods. The results were highly corroborated by the known mutations in each group. Clustered copy number loss of genes located at the 1p and 19q loci was detected in all 13 oligodendroglioma cases, which harbor the 1p/19q codeletion. CONCLUSION: The application of OCAv3-based NGS will improve diagnostic accuracy in DG, with the most beneficial aspects expected in detecting copy number alterations to identify the 1p/19q codeletion correctly. Copyright
Authors: Jamal H Carter; Samantha N McNulty; Patrick J Cimino; Catherine E Cottrell; Jonathan W Heusel; Katinka A Vigh-Conrad; Eric J Duncavage Journal: J Mol Diagn Date: 2016-12-30 Impact factor: 5.568