Kresbach Catena, Hack Karoline, Ricklefs Franz, Schüller Ulrich
Department of Pediatric Hematology and Oncology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Research Institute Children's Cancer Center Hamburg, Hamburg, Germany.
Neurooncol Adv. 2024 Feb 13;6(Suppl 3):iii3-iii12. doi: 10.1093/noajnl/vdad127. eCollection 2024 Oct.
Tumors located in the spinal cord and its coverings can be diagnostically challenging and require special consideration regarding treatment options. During the last decade, important advances regarding the molecular characterization of central and peripheral nervous system tumors were achieved, resulting in improved diagnostic precision, and understanding of the tumor spectrum of this compartment. In particular, array-based global DNA methylation profiling has emerged as a valuable tool to delineate biologically and clinically relevant tumor subgroups and has been incorporated in the current WHO classification for central nervous system tumors of 2021. In addition, several genetic drivers have been described, which may also help to define distinct tumor types and subtypes. Importantly, the current molecular understanding not only sharpens diagnostic precision but also provides the opportunity to investigate both targeted therapies as well as risk-adapted changes in treatment intensity. Here, we discuss the current knowledge and the clinical relevance of molecular neuropathology in spinal tumor entities.
位于脊髓及其被膜的肿瘤在诊断上具有挑战性,在治疗方案的选择上需要特殊考虑。在过去十年中,中枢和外周神经系统肿瘤的分子特征研究取得了重要进展,提高了诊断的准确性,并增进了对该区域肿瘤谱的认识。特别是,基于阵列的全基因组DNA甲基化分析已成为划分生物学和临床相关肿瘤亚组的重要工具,并已纳入2021年世界卫生组织中枢神经系统肿瘤的现行分类中。此外,还发现了一些基因驱动因素,这也有助于明确不同的肿瘤类型和亚型。重要的是,目前的分子认识不仅提高了诊断的准确性,还为研究靶向治疗以及根据风险调整治疗强度提供了机会。在此,我们讨论了脊髓肿瘤实体中分子神经病理学的当前知识及其临床相关性。