Zhao Danyi, Qu Yanjun, Gao Na, Wu Tao
Department of Medical Oncology, The Second Affiliated Hospital of Dalian Medical University, Dalian, China.
Department of Obstetrics and Gynecology, The First Affiliated Hospital of Dalian Medical University, Dalian, China.
Discov Oncol. 2024 Aug 29;15(1):386. doi: 10.1007/s12672-024-01268-7.
Colorectal cancer is one of the most common cancers around the world, which is a severe threat to people's health. SMAD4 belongs to the dwarfin/SMAD family, which plays a crucial role in TGF-β and BMP signal pathways. As the molecular characterization of colon cancer patients following SMAD4 mutations remains unclear, we integrated multi-omics data of SMAD4 mutant patients to reveal the profile of molecular characterization of SMAD4 mutation. A missense mutation is the most common mutant type of SMAD4. Patients with SMAD4 mutation had worse survival. Tumor tissues from patients carrying the SMAD4 mutation showed a reduction in various immune cells, such as CD4 + memory T cells and memory B cells. Many differential genes were identified compared to the SMAD4 mutation-free group and could be significantly enriched for tumor- and immune-related signaling pathways. In addition, the mutant group had different drug sensitivities than the non-mutant group.
结直肠癌是全球最常见的癌症之一，对人们的健康构成严重威胁。SMAD4属于dwarfin/SMAD家族，在转化生长因子-β（TGF-β）和骨形态发生蛋白（BMP）信号通路中起关键作用。由于SMAD4突变后结肠癌患者的分子特征仍不清楚，我们整合了SMAD4突变患者的多组学数据，以揭示SMAD4突变的分子特征概况。错义突变是SMAD4最常见的突变类型。SMAD4突变患者的生存率较差。携带SMAD4突变的患者肿瘤组织中各种免疫细胞减少，如CD4 + 记忆T细胞和记忆B细胞。与无SMAD4突变组相比，鉴定出许多差异基因，这些基因可显著富集于肿瘤和免疫相关信号通路。此外，突变组与非突变组的药物敏感性不同。
