【佳学基因靶向药物基因检测】p53 的高表达可预测食管鳞状细胞癌中的生存不良而不是 TP53 突变

基因检测机构未来

挖掘基因检测人员学习手册听到《J Oncol》在 2023 Jan 10;2023:3801526.发表了一篇题目为《》肿瘤靶向药物治疗基因检测临床研究文章。该研究由Yan Jin, Xueke Zhao, Xin Song, Ran Wang, Zongmin Fan, Panpan Wang, Miaomiao Yang, Fuyou Zhou, Qide Bao, Lidong Wang等完成。促进了肿瘤的精准治疗与个性化用药的发展，进一步强调了基因信息检测与分析的重要性。

肿瘤基因检测及靶向药物治疗研究关键词：

TP53,肿瘤,抑癌基因,食管,鳞状细胞癌

肿瘤治疗检测基因临床应用结果

TP53 是一种众所周知的肿瘤抑制基因，也是人类癌症中最常见的遗传改变之一。然而，p53 作为食管鳞状细胞癌 (ESCC) 预后标志物的作用在 TP53 改变与临床结果之间的关联中存在争议。为了解决这个问题，我们评估了大规模 ESCC 患者的 TP53 突变、p53 蛋白表达、临床病理学参数和存活率。本研究包括两个队列：在 316 名 ESCC 患者中通过下一代测序检测到 TP53 突变，在 6,028 名 ESCC 患者中通过免疫组织化学检测 p53 蛋白表达。使用 Kaplan-Meier 曲线和 Cox 比例风险模型进行生存分析。 316例食管鳞癌患者中有241例（76.3%）存在TP53突变，6028例食管鳞癌患者（其中p53蛋白高表达1819例）p53蛋白阳性表达率为59.1%。大多数突变是错义的，其中p53蛋白高表达。与野生型TP53相比，TP53基因突变与生存时间无显着相关性(p=0.083)。在多变量分析中，p53 蛋白表达是 ESCC 的独立预后因素。 p53 蛋白高表达组与低表达组相比，ESCC 患者的生存率较差（p < 0.001）。 p53 蛋白的高表达，而不是 TP53 突变，预示着 ESCC 患者的生存不佳，并且 p53 蛋白表达可能有可能成为 ESCC 的预后生物标志物和治疗靶点。

肿瘤发生与革命国际数据库描述：

TP53 is a well-known tumor suppressor gene and one of the most common genetic alterations in human cancers. However, the role of p53 as a prognostic marker of esophageal squamous cell carcinoma (ESCC) is controversial in the association between TP53 alterations and clinical outcomes. To address this issue, we evaluated TP53 mutations, p53 protein expression, clinicopathological parameters, and survivals rates in a large scale of patients with ESCC. Two cohorts were included in this study: TP53 mutations were detected by next-generation sequencing in 316 ESCC patients, and p53 protein expression was tested by immunohistochemistry in 6,028 ESCC patients. Survival analysis was performed using the Kaplan-Meier curve and the Cox proportional hazards model. TP53 mutations were found in ESCC patients from 241 of 316 (76.3%), and the rate of positive expression of p53 protein was 59.1% in 6,028 ESCC patients (including 1819 with high expression of p53 protein), respectively. Most mutations were missense, which has a high expression of p53 protein. Compared with wild-typeTP53, TP53 gene mutations were not significantly associated with survival time (p=0.083). In multivariate analysis, the p53 protein expression was an independent prognostic factor for ESCC. The high-expression group of p53 protein has poor survival (p < 0.001) compared to low-expression group in patients with ESCC. The high expression of the p53 protein, not the TP53 mutation, is predictive of poor survival in patients with ESCC, and p53 protein expression might have the potential to be a prognosis biomarker and therapy target in ESCC.