Nasrallah MacLean P, Binder Zev A, Oldridge Derek A, Zhao Jianhua, Lieberman David B, Roth Jacquelyn J, Watt Christopher D, Sukhadia Shrey, Klinman Eva, Daber Robert D, Desai Arati, Brem Steven, O'Rourke Donald M, Morrissette Jennifer J D
Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Bioreference Laboratories, West Deptford, NJ, USA.
Acad Pathol. 2019 May 27;6:2374289519848353. doi: 10.1177/2374289519848353. eCollection 2019 Jan-Dec.
Molecular profiling of glioblastoma has revealed complex cytogenetic, epigenetic, and molecular abnormalities that are necessary for diagnosis, prognosis, and treatment. Our neuro-oncology group has developed a data-driven, institutional consensus guideline for efficient and optimal workup of glioblastomas based on our routine performance of molecular testing. We describe our institution's testing algorithm, assay development, and genetic findings in glioblastoma, to illustrate current practices and challenges in neuropathology related to molecular and genetic testing. We have found that coordination of test requisition, tissue handling, and incorporation of results into the final pathologic diagnosis by the neuropathologist improve patient care. Here, we present analysis of promoter methylation and next-generation sequencing results of 189 patients, obtained utilizing our internal processes led by the neuropathology team. Our institutional pathway for neuropathologist-driven molecular testing has streamlined the management of glioblastoma samples for efficient return of results for incorporation of genomic data into the pathological diagnosis and optimal patient care.
胶质母细胞瘤的分子谱分析揭示了复杂的细胞遗传学、表观遗传学和分子异常，这些异常对于诊断、预后和治疗至关重要。我们的神经肿瘤学团队基于我们在分子检测方面的常规操作，制定了一个数据驱动的机构共识指南，用于胶质母细胞瘤的高效和最佳检查。我们描述了我们机构的检测算法、检测方法开发以及胶质母细胞瘤的基因发现，以说明神经病理学中与分子和基因检测相关的当前实践和挑战。我们发现，检测申请的协调、组织处理以及神经病理学家将结果纳入最终病理诊断，可改善患者护理。在此，我们展示了对189例患者的启动子甲基化和下一代测序结果的分析，这些结果是利用我们由神经病理学团队主导的内部流程获得的。我们机构由神经病理学家驱动的分子检测途径简化了胶质母细胞瘤样本的管理，以便高效返回结果，将基因组数据纳入病理诊断并实现最佳患者护理。
