Division of Cellular Signaling, National Cancer Center Research Institute, Tokyo, Japan.
Department of Translational Oncology, National Cancer Center Research Institute, Tokyo, Japan.
Nat Cancer. 2021 Sep;2(9):962-977. doi: 10.1038/s43018-021-00240-6. Epub 2021 Aug 16.
Peritoneal metastasis, a hallmark of incurable advanced gastric cancer (GC), presently has no curative therapy and its molecular features have not been examined extensively. Here we present a comprehensive multi-omic analysis of malignant ascitic fluid samples and their corresponding tumor cell lines from 98 patients, including whole-genome sequencing, RNA sequencing, DNA methylation and enhancer landscape. We identify a higher frequency of receptor tyrosine kinase and mitogen-activated protein kinase pathway alterations compared to primary GC; moreover, approximately half of the gene alterations are potentially treatable with targeted therapy. Our analyses also stratify ascites-disseminated GC into two distinct molecular subtypes: one displaying active super enhancers (SEs) at the ELF3, KLF5 and EHF loci, and a second subtype bearing transforming growth factor-β (TGF-β) pathway activation through SMAD3 SE activation and high expression of transcriptional enhancer factor TEF-1 (TEAD1). In the TGF-β subtype, inhibition of the TEAD pathway circumvents therapy resistance, suggesting a potential molecular-guided therapeutic strategy for this subtype of intractable GC.
腹膜转移是不可治愈的晚期胃癌(GC)的标志,目前尚无治愈性疗法,其分子特征也未得到广泛研究。在这里,我们对 98 名患者的恶性腹水样本及其相应的肿瘤细胞系进行了全面的多组学分析,包括全基因组测序、RNA 测序、DNA 甲基化和增强子图谱。与原发性 GC 相比,我们发现受体酪氨酸激酶和丝裂原活化蛋白激酶途径的改变频率更高;此外,大约一半的基因改变可能可以用靶向治疗来治疗。我们的分析还将腹水播散性 GC 分为两种不同的分子亚型:一种在 ELF3、KLF5 和 EHF 基因座上显示活跃的超级增强子(SE),另一种通过 SMAD3 SE 激活和转录增强因子 TEF-1(TEAD1)的高表达表现出转化生长因子-β(TGF-β)途径的激活。在 TGF-β 亚型中,TEAD 途径的抑制可规避治疗耐药性,这表明针对这种难治性 GC 亚型的潜在分子指导治疗策略。