Desterke Christophe, Jaulin Fanny, Dornier Emmanuel
Inserm U1310, Faculté de Médecine, Université Paris Saclay, F-94800 Villejuif, France.
Inserm U1279, Gustave Roussy, F-94805 Villejuif, France.
Biomedicines. 2024 Mar 6;12(3):590. doi: 10.3390/biomedicines12030590.
Colorectal cancer (CRC) is the second cause of cancer-related death; the CpG-island methylation pathway (CIMP) is associated with KRAS/BRAF mutations, two oncogenes rewiring cell metabolism, worse prognosis, and resistance to classical chemotherapies. Despite this, the question of a possible metabolic rewiring in CIMPs has never been investigated. Here, we analyse whether metabolic dysregulations are associated with tumour methylation by evaluating the transcriptome of CRC tumours. CIMP-high patients were found to present a hypermetabolism, activating mainly carbohydrates, folates, sphingolipids, and arachidonic acid metabolic pathways. A third of these genes had epigenetic targets of Myc in their proximal promoter, activating carboxylic acid, tetrahydrofolate interconversion, nucleobase, and oxoacid metabolisms. In the Myc signature, the expression of GAPDH, TYMS, DHFR, and TK1 was enough to predict methylation levels, microsatellite instability (MSI), and mutations in the mismatch repair (MMR) machinery, which are strong indicators of responsiveness to immunotherapies. Finally, we discovered that CIMP tumours harboured an increase in genes involved in the one-carbon metabolism, a pathway critical to providing nucleotides for cancer growth and methyl donors for DNA methylation, which is associated with worse prognosis and tumour hypermethylation. Transcriptomics could hence become a tool to help clinicians stratify their patients better.
结直肠癌(CRC)是癌症相关死亡的第二大原因;CpG岛甲基化途径(CIMP)与KRAS/BRAF突变相关,这两个癌基因可重塑细胞代谢,导致预后较差且对传统化疗产生耐药性。尽管如此,CIMP中是否存在可能的代谢重塑问题从未被研究过。在此,我们通过评估CRC肿瘤的转录组来分析代谢失调是否与肿瘤甲基化相关。我们发现CIMP高的患者呈现出高代谢状态,主要激活碳水化合物、叶酸、鞘脂和花生四烯酸代谢途径。这些基因中有三分之一在其近端启动子中有Myc的表观遗传靶点,可激活羧酸、四氢叶酸相互转化、核碱基和含氧酸代谢。在Myc特征中,甘油醛-3-磷酸脱氢酶(GAPDH)、胸苷酸合成酶(TYMS)、二氢叶酸还原酶(DHFR)和胸苷激酶1(TK1)的表达足以预测甲基化水平、微卫星不稳定性(MSI)以及错配修复(MMR)机制中的突变,这些都是免疫治疗反应性的有力指标。最后,我们发现CIMP肿瘤中参与一碳代谢的基因增加,一碳代谢是为癌症生长提供核苷酸和为DNA甲基化提供甲基供体的关键途径,与较差的预后和肿瘤高甲基化相关。因此,转录组学可能成为帮助临床医生更好地对患者进行分层的工具。