Is Next-Generation Sequencing Alone Sufficient to Reliably Diagnose Gliomas?
| Autor: | Sachie Ikegami, Daniel J. Brat, Kwok Ling Kam, Marina N. Nikiforova, Christina L. Appin, Rimas V. Lukas, Craig Horbinski, Somak Roy, Qinwen Mao |
|---|---|
| Rok vydání: | 2020 |
| Předmět: |
Adult
Male medicine.medical_specialty Adolescent Neuropathology Pathology and Forensic Medicine Cohort Studies Young Adult 03 medical and health sciences Cellular and Molecular Neuroscience 0302 clinical medicine Glioma medicine Humans Tumor type Tumor location 030304 developmental biology 0303 health sciences Brain Neoplasms business.industry High-Throughput Nucleotide Sequencing Astrocytoma Original Articles General Medicine medicine.disease Molecular diagnostics Neurology Brain lesions Female Neurology (clinical) Radiology Oligodendroglioma business 030217 neurology & neurosurgery |
| Zdroj: | J Neuropathol Exp Neurol |
| ISSN: | 1554-6578 0022-3069 |
| DOI: | 10.1093/jnen/nlaa044 |
| Popis: | The power and widespread use of next-generation sequencing (NGS) in surgical neuropathology has raised questions as to whether NGS might someday fully supplant histologic-based examination. We therefore sought to determine the feasibility of relying on NGS alone for diagnosing infiltrating gliomas. A total of 171 brain lesions in adults, all of which had been analyzed by GlioSeq NGS, comprised the study cohort. Each case was separately diagnosed by 6 reviewers, based solely on age, sex, tumor location, and NGS results. Results were compared with the final integrated diagnoses and scored on the following scale: 0 = either wrong tumor type or correct tumor type but off by 2+ grades; 1 = off by 1 grade; 2 = exactly correct. Histology alone was treated as a seventh reviewer. Overall reviewer accuracy ranged from 81.6% to 94.2%, while histology alone scored 87.1%. For glioblastomas, NGS was more accurate than histology alone (93.8%–97.9% vs 87.5%). The NGS accuracy for grade II and III astrocytoma and oligodendroglioma was only 54.3%–84.8% and 34.4%–87.5%, respectively. Most uncommon gliomas, including BRAF-driven tumors, could not be accurately classified just by NGS. These data indicate that, even in this era of advanced molecular diagnostics, histologic evaluation is still an essential part of optimal patient care. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|