Dai Honghai, Wei Yanjun, Liu Yunxia, Liu Jingwen, Yu Ruoying, Zhang Junli, Pang Jiaohui, Shao Yang, Li Qiang, Yang Zhe
Tumor Research and Therapy Center, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan, China.
Tumor Research and Therapy Center, Shandong Provincial Hospital Affiliated to Shandong University, Jinan, China.
Front Genet. 2022 Apr 25;12:799663. doi: 10.3389/fgene.2021.799663. eCollection 2021.
Esophageal squamous cell carcinoma (ESCC) is the major type of EC in China. Chemoradiotherapy is a standard definitive treatment for early-stage EC and significantly improves local control and overall survival for late-stage patients. However, chemoradiotherapy resistance, which limits therapeutic efficacy and treatment-induced toxicity, is still a leading problem for treatment break. To optimize the selection of ESCC patients for chemoradiotherapy, we retrospectively analyzed the clinical features and genome landscape of a Chinese ESCC cohort of 58 patients. was the most frequent mutation gene, followed by . Frequently, copy number variants were found in (24/58, 41.4%), (23/58, 39.7%), (22/58, 37.9%), and (20/58, 34.5%). and amplifications were mutually exclusive in this cohort. Using univariate and multivariate analyses, the variant and mutant were identified as adverse factors for OS. Patients with - pathway alterations displayed longer PFS and OS than patients with an intact - pathway. On the contrary, two patients with - pathway alterations displayed significantly shortened PFS and OS, which may be associated with dCRT resistance. Our data highlighted the prognostic value of aberrant cancer pathways in ESCC patients, which may provide guidance for better chemoradiotherapy management.
食管鳞状细胞癌（ESCC）是中国食管癌的主要类型。放化疗是早期食管癌的标准根治性治疗方法，可显著提高局部控制率并改善晚期患者的总生存率。然而，放化疗耐药性限制了治疗效果并导致治疗毒性，仍然是治疗中断的主要问题。为了优化ESCC患者放化疗的选择，我们回顾性分析了58例中国ESCC队列患者的临床特征和基因组图谱。 是最常见的突变基因，其次是 。常见的拷贝数变异存在于 （24/58，41.4%）、 （23/58，39.7%）、 （22/58，37.9%）和 （20/58，34.5%）中。在该队列中， 和 扩增相互排斥。通过单因素和多因素分析， 变异和 突变被确定为总生存期的不利因素。与 - 通路完整的患者相比， - 通路改变的患者显示出更长的无进展生存期和总生存期。相反，两名 - 通路改变的患者显示出明显缩短的无进展生存期和总生存期，这可能与同步放化疗耐药有关。我们的数据突出了异常癌症通路在ESCC患者中的预后价值，这可能为更好的放化疗管理提供指导。
