Department of Neurosurgery, University of California San Francisco, San Francisco, CA, USA.
Acta Neurochir (Wien). 2020 Aug;162(8):1929-1939. doi: 10.1007/s00701-020-04426-2. Epub 2020 May 30.
The importance of genomic information in intrinsic brain tumors is highlighted in the World Health Organization (WHO) 2016 classification of gliomas, which now incorporates both phenotype and genotype data to assign a diagnosis. By using genetic markers to both categorize tumors and advise patients on prognosis, this classification system has minimized the risk of tissue sampling error, improved diagnostic accuracy, and reduced inter-rater variability. In the neurosurgical community, it is critical to understand the role genetics plays in tumor biology, what certain mutations mean for the patient's prognosis and adjuvant treatment, and how to interpret the results of sequencing data that are generated following tumor resection. In this review, we examine the critical role of genetics for diagnosis and prognosis and highlight the importance of tumor genetics for neurosurgeons caring for patients with diffuse lower grade gliomas.
基因组信息在原发性脑肿瘤中的重要性在世界卫生组织(WHO)2016 年的胶质瘤分类中得到了强调,该分类现在结合了表型和基因型数据来进行诊断。通过使用遗传标记对肿瘤进行分类,并为患者提供预后建议,该分类系统最大限度地降低了组织采样误差的风险,提高了诊断准确性,并减少了评分者间的变异性。在神经外科学界,了解遗传学在肿瘤生物学中的作用、某些突变对患者预后和辅助治疗的意义以及如何解释肿瘤切除后产生的测序数据的结果至关重要。在这篇综述中,我们研究了遗传学在诊断和预后中的关键作用,并强调了肿瘤遗传学对神经外科医生治疗弥漫性低级别胶质瘤患者的重要性。