Ludwig Collaborative Laboratory, Department of Neurosurgery, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
Curr Opin Oncol. 2012 Jan;24(1):83-9. doi: 10.1097/CCO.0b013e32834d816a.
IDH1/2 mutations occur in up to 70% of low-grade gliomas and secondary glioblastomas. Mutation of these enzymes reduces the wildtype function of the enzyme (conversion of isocitrate to α-ketoglutarate) while conferring a new enzymatic function, the production of D-2-hydroxyglutarate (D-2-HG) from α-ketoglutarate (α-KG). However, it is unclear how these enzymatic changes contribute to tumorigenesis. Here, we discuss the recent studies that demonstrate how IDH1/2 mutation may alter the metabolism and epigenome of gliomas, how these changes may contribute to tumor formation, and opportunities they might provide for molecular targeting.
Metabolomic studies of IDH1/2 mutant cells have revealed alterations in glutamine, fatty acid, and citrate synthesis pathways. Additionally, D-2-HG produced by IDH1/2 mutant cells can competitively inhibit α-KG-dependent enzymes, including histone demethylases and DNA hydroxylases, potentially leading to a distinct epigenetic phenotype. Alterations in metabolism and DNA methylation present possible mechanisms of tumorigenesis.
Recent attempts to improve outcomes for glioma patients have resulted in incremental gains. Studies of IDH1/2 mutations have provided mechanistic insights into tumorigenesis and potential avenues for therapeutic intervention. Further study of IDH1/2 mutations might allow for improved therapeutic strategies.
IDH1/2 突变发生于高达 70%的低级别胶质瘤和继发性胶质母细胞瘤中。这些酶的突变降低了酶的野生型功能(将异柠檬酸转化为α-酮戊二酸),同时赋予了新的酶功能,即从α-酮戊二酸(α-KG)生成 D-2-羟戊二酸(D-2-HG)。然而,这些酶的变化如何促进肿瘤发生仍不清楚。在这里,我们讨论了最近的研究,这些研究表明 IDH1/2 突变如何改变胶质瘤的代谢和表观基因组,这些变化如何促进肿瘤形成,以及它们可能为分子靶向提供哪些机会。
IDH1/2 突变细胞的代谢组学研究揭示了谷氨酰胺、脂肪酸和柠檬酸合成途径的改变。此外,IDH1/2 突变细胞产生的 D-2-HG 可以竞争性抑制依赖α-KG 的酶,包括组蛋白去甲基酶和 DNA 羟化酶,可能导致独特的表观遗传表型。代谢和 DNA 甲基化的改变可能是肿瘤发生的机制。
最近为改善胶质瘤患者的预后所做的尝试取得了渐进性的进展。对 IDH1/2 突变的研究为肿瘤发生提供了机制上的见解,并为治疗干预提供了潜在途径。进一步研究 IDH1/2 突变可能会改善治疗策略。