Blümcke Ingmar
Department of Neuropathology, University Hospital Erlangen Germany.
Free Neuropathol. 2022 May 3;3:12. doi: 10.17879/freeneuropathology-2022-3813. eCollection 2022 Jan.
The impact of a precise histopathology diagnosis and molecular workup for surgical patient management remains a controversial issue in epileptology with a lack of diagnostic agreement as root cause. Very recent advances in genotype-phenotype characterization of epilepsy-associated developmental brain lesions, including the first diagnostically useful DNA methylation studies, opened new avenues and will help to finally resolve these issues. A series of most recent articles were decisively selected by the author to exemplify the areas of improvement in neuropathology and epilepsy surgery. These topics include the progress in genotype-phenotype association studies of Focal Cortical Dysplasia (FCD) leading to the discovery of new molecularly defined entities, i.e. mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE), altered. These studies also triggered the first update of the international FCD consensus classification scheme from 2011, which will hopefully support diagnostic agreement in clinical practice and research. The dilemma of new tumor entities proposed by the 5th edition of the WHO classification primarily associated with early seizure onset yet not well introduced to the epileptology community will also be discussed in the light of emerging experimental evidence when transfecting the developing murine brain with the single most important genetic alteration for both carcino- and epileptogenesis, i.e.
精确的组织病理学诊断和分子检查对手术患者管理的影响在癫痫学领域仍是一个有争议的问题,其根本原因是缺乏诊断共识。癫痫相关发育性脑损伤的基因型-表型特征研究取得了最新进展,包括首次具有诊断价值的DNA甲基化研究,开辟了新途径,将有助于最终解决这些问题。作者果断选取了一系列最新文章,以举例说明神经病理学和癫痫手术领域的改进方向。这些主题包括局灶性皮质发育不良(FCD)的基因型-表型关联研究进展,该研究发现了新的分子定义实体,即癫痫中伴有少突胶质细胞增生的轻度皮质发育畸形(MOGHE)。这些研究还促使2011年国际FCD共识分类方案首次更新,有望在临床实践和研究中支持诊断共识。鉴于向发育中的小鼠脑内转染致癌和致癫痫发生的单一最重要基因改变时出现的实验证据,还将讨论世界卫生组织第5版分类中提出的主要与早期癫痫发作相关但尚未很好地引入癫痫学界的新肿瘤实体的困境。