Department of Pathology, Northwestern University, Chicago, Illinois.
Department of Neurological Surgery, University of California, San Francisco, San Francisco, California.
J Neuropathol Exp Neurol. 2020 Jul 1;79(7):763-766. doi: 10.1093/jnen/nlaa044.
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.
下一代测序（NGS）在外科神经病理学中的强大功能和广泛应用引发了一个问题，即 NGS 是否有朝一日能够完全取代基于组织学的检查。因此，我们试图确定仅依靠 NGS 诊断浸润性神经胶质瘤的可行性。共有 171 例成人脑病变被纳入研究队列，这些病变均通过 GlioSeq NGS 进行了分析。每个病例均由 6 位独立的评估者根据年龄、性别、肿瘤位置和 NGS 结果进行单独诊断。结果与最终的综合诊断进行比较，并按照以下评分标准进行评分：0=要么肿瘤类型错误，要么正确但相差 2 个以上级别；1=相差 1 个级别；2=完全正确。单纯的组织学被视为第七位评估者。总体评估者的准确率在 81.6%至 94.2%之间，而单纯的组织学准确率为 87.1%。对于胶质母细胞瘤，NGS 的准确率高于单纯的组织学（93.8%-97.9%比 87.5%）。II 级和 III 级星形细胞瘤和少突胶质细胞瘤的 NGS 准确率仅为 54.3%-84.8%和 34.4%-87.5%。大多数罕见的神经胶质瘤，包括 BRAF 驱动的肿瘤，仅通过 NGS 无法准确分类。这些数据表明，即使在这个先进的分子诊断时代，组织学评估仍然是最佳患者护理的重要组成部分。
