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Design and Validation of a Gene-Targeted, Next-Generation Sequencing Panel for Routine Diagnosis in Gliomas

Department of Pathology, Erasme Hospital, Université Libre de Bruxelles, 1070 Brussels, Belgium
Authors to whom correspondence should be addressed.
Equal contribution.
Cancers 2019, 11(6), 773;
Received: 11 April 2019 / Revised: 17 May 2019 / Accepted: 31 May 2019 / Published: 4 June 2019
(This article belongs to the Special Issue Application of Next-Generation Sequencing in Cancers)
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The updated 2016 World Health Organization (WHO) classification system for gliomas integrates molecular alterations and histology to provide a greater diagnostic and prognostic utility than the previous, histology-based classification. The increasing number of markers that are tested in a correct diagnostic procedure makes gene-targeted, next-generation sequencing (NGS) a powerful tool in routine pathology practice. We designed a 14-gene NGS panel specifically aimed at the diagnosis of glioma, which allows simultaneous detection of mutations and copy number variations, including the 1p/19q-codeletion and Epidermal Growth Factor Receptor (EGFR) amplification. To validate this panel, we used reference mutated DNAs, nontumor and non-glioma samples, and 52 glioma samples that were previously characterized. The panel was then prospectively applied to 91 brain lesions. A specificity of 100% and sensitivity of 99.4% was achieved for mutation detection. Orthogonal methods, such as in situ hybridization and immunohistochemical techniques, were used for validation, which showed high concordance. The molecular alterations that were identified allowed diagnosis according to the updated WHO criteria, and helped in the differential diagnosis of difficult cases. This NGS panel is an accurate and sensitive method, which could replace multiple tests for the same sample. Moreover, it is a rapid and cost-effective approach that can be easily implemented in the routine diagnosis of gliomas. View Full-Text
Keywords: next-generation sequencing; glioma; 1p/19q codeletion; molecular pathology next-generation sequencing; glioma; 1p/19q codeletion; molecular pathology

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D’Haene, N.; Meléndez, B.; Blanchard, O.; De Nève, N.; Lebrun, L.; Van Campenhout, C.; Salmon, I. Design and Validation of a Gene-Targeted, Next-Generation Sequencing Panel for Routine Diagnosis in Gliomas. Cancers 2019, 11, 773.

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