Scheie David, Kufaishi Huda Haidar Abdallah, Broholm Helle, Lund Eva Løbner, de Stricker Karin, Melchior Linea C, Grauslund Morten
Department of Pathology, Rigshospitalet, Copenhagen, Denmark.
Department of Genetics and Pathology, Laboratory Medicine, Lund, Sweden.
APMIS. 2019 May;127(5):265-287. doi: 10.1111/apm.12916. Epub 2019 Feb 10.
Until recently, diagnostics of brain tumors were almost solely based on morphology and immunohistochemical stainings for relatively unspecific lineage markers. Although certain molecular markers have been known for longer than a decade (combined loss of chromosome 1p and 19q in oligodendrogliomas), molecular biomarkers were not included in the WHO scheme until 2016. Now, the classification of diffuse gliomas rests on an integration of morphology and molecular results. Also, for many other central nervous system tumor entities, specific diagnostic, prognostic and predictive biomarkers have been detected and continue to emerge. Previously, we considered brain tumors with similar histology to represent a single disease entity. We now realize that histologically identical tumors might show alterations in different molecular pathways, and often represent separate diseases with different natural history and response to treatment. Hence, knowledge about specific biomarkers is of great importance for individualized treatment and follow-up. In this paper we review the biomarkers that we currently use in the diagnostic work-up of brain tumors.
直到最近，脑肿瘤的诊断几乎完全基于形态学以及针对相对非特异性谱系标志物的免疫组织化学染色。尽管某些分子标志物已被知晓超过十年（如少突胶质细胞瘤中1号染色体和19号染色体的联合缺失），但分子生物标志物直到2016年才被纳入世界卫生组织的分类方案。如今，弥漫性胶质瘤的分类基于形态学和分子结果的整合。此外，对于许多其他中枢神经系统肿瘤实体，已经检测到并不断涌现出特定的诊断、预后和预测生物标志物。以前，我们认为具有相似组织学特征的脑肿瘤代表单一疾病实体。现在我们意识到，组织学上相同的肿瘤可能在不同分子途径中表现出改变，并且通常代表具有不同自然史和治疗反应的不同疾病。因此，关于特定生物标志物的知识对于个体化治疗和随访非常重要。在本文中，我们回顾了目前在脑肿瘤诊断检查中使用的生物标志物。
