Is next-generation sequencing alone sufficient to reliably diagnose gliomas?

Kwok Ling Kam, Christina L. Appin, Qinwen Mao, Sachie Ikegami, Rimas V. Lukas, Marina N. Nikiforova, Somak Roy, Daniel J. Brat, Craig Horbinski*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

1 Scopus citations

Abstract

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 ¼ either wrong tumor type or correct tumor type but off by 2þ grades; 1 ¼ off by 1 grade; 2 ¼ 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.

Original languageEnglish (US)
Pages (from-to)763-766
Number of pages4
JournalJournal of neuropathology and experimental neurology
Volume79
Issue number7
DOIs
StatePublished - Jul 1 2020

Keywords

  • Astrocytoma
  • Glioblastoma
  • Glioma
  • Histology
  • Next-generation sequencing
  • Oligodendroglioma

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Neurology
  • Clinical Neurology
  • Cellular and Molecular Neuroscience

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