Kálovits Ferenc, Tompa Márton, Nagy Ádám, Kálmán Bernadette
Department of Neurosurgery, Markusovszky University Teaching Hospital, Szombathely.
Graduate Studies in Clinical Neurosciences, University of Pécs, Pécs.
Ideggyogy Sz. 2018 Jul 30;71(7-08):237-247. doi: 10.18071/isz.71.0237.
Oncogenesis is related to a sequential accumulation of somatic mutations. Comprehensive characterizations of the genomic landscapes have been completed recently for several tumors, glioblastoma being among the first ones. Our own translational research studies have been focused on defining molecular subtypes of glioblastoma in the clinical setting because of an expected prognostic and therapeutic utility of the information. Somatic mutations in genes of the isocitrate dehydrogenase (IDH) enzyme family appear to be among the best-defined biomarkers that also influence tumor behavior and confer clinical utility.
We have reviewed the literature including our own results to summarize basic science and clinical correlates of IDH mutations.
The surveyed data reveal genomic, transcriptomic, epigenomic and biochemical consequences of IDH mutations in the context of glioblastoma biology and phenotype. In addition, a few studies highlight the therapeutic potential of targeting IDH, although thus far all tests have only been conducted in the preclinical setting.
Somatic mutations in isoforms of IDH genes represent important biomarkers that correlate with biochemical, biological and phenotypic features of glioblastoma, and may also facilitate the development of new therapeutic strategies complementing the currently available approved protocols.
肿瘤发生与体细胞突变的逐步积累有关。最近已完成了几种肿瘤基因组图谱的全面特征描述，胶质母细胞瘤是首批完成的肿瘤之一。由于预期该信息具有预后和治疗价值，我们自己的转化研究一直专注于在临床环境中定义胶质母细胞瘤的分子亚型。异柠檬酸脱氢酶（IDH）酶家族基因中的体细胞突变似乎是定义最明确的生物标志物之一，其也会影响肿瘤行为并具有临床应用价值。
我们回顾了包括我们自己研究结果在内的文献，以总结IDH突变的基础科学和临床相关性。
调查数据揭示了在胶质母细胞瘤生物学和表型背景下IDH突变的基因组、转录组、表观基因组和生化后果。此外，一些研究强调了靶向IDH的治疗潜力，尽管迄今为止所有测试仅在临床前环境中进行。
IDH基因亚型中的体细胞突变代表了重要的生物标志物，其与胶质母细胞瘤的生化、生物学和表型特征相关，并且还可能有助于开发补充当前可用批准方案的新治疗策略。
