Clinical and Genomic Analysis of Patients with Short Survival after Surgery for Esophageal Squamous Cell Carcinoma.

IF 2 4区 医学 Q3 GASTROENTEROLOGY & HEPATOLOGY Digestive Diseases Pub Date : 2023-01-01 DOI:10.1159/000527983
Lu Gao, Rong-Yun Guo, Hao Lu, Zhi-Hua Shi, Jun-Feng Liu
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引用次数: 1

Abstract

Background: This study aimed to investigate the prognosis of Chinese patients with esophageal squamous cell carcinoma (ESCC) after surgery and its correlation with genomic alterations (GAs) to identify potential prognostic markers.

Methods: The clinical information, pathological specimens, and follow-up information of 50 patients with stage II and III primary ESCC who were surgically resected in the Fourth Hospital of Hebei Medical University from January 2011 to December 2015 were collected in the present study. Based on overall survival (OS), these patients were divided into the short OS group (<3 years) and the long OS group (>4 years). GA detection was performed in patients with ESCC using next-generation sequencing. All categories of GAs were evaluated; the landscape of GAs in patients with ESCC was mapped; and the correlations between clinical characteristics, prognosis, and GAs were analyzed.

Results: There was no skew in the distribution of gender, smoking, and adjuvant therapy between the long OS group and the short OS group. A total of 372 GAs were detected in the 50 patients with ESCC, with 7 types of GAs, including insertions, deletions, and copy number variations, and missense mutations occurred most frequently, with a frequency of >50.0%. Tumor protein 53 (TP53; 50/50, 100%) was the most commonly mutated gene in the entire cohort followed by cyclin D1, cyclin-dependent kinase inhibitor 2A (CDKN2A), and fibroblast growth factor 19. More CDKN2A loss (p = 0.098) was detected in the short OS group than in the long OS group. The results of the multivariate analysis after adjustment for clinical factors showed a statistically significant difference in the CDKN2A loss between the two groups. Data obtained from The Cancer Genome Atlas for surgical ESCC revealed that the CDKN2A loss may be responsible for the poorer prognosis in postoperative patients with ESCC.

Conclusion: In patients with progressive primary ESCC, the poor postoperative prognosis may be epiphenomenally associated with the CDKN2A loss.

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食管鳞状细胞癌术后短生存期患者的临床和基因组分析。
背景:本研究旨在探讨中国食管鳞状细胞癌(ESCC)患者术后预后及其与基因组改变(GAs)的相关性,以确定潜在的预后标志物。方法:收集2011年1月至2015年12月河北医科大学第四医院手术切除的50例II、III期原发性ESCC患者的临床资料、病理标本及随访资料。根据总生存期(OS)将患者分为短OS组(4年)。采用下一代测序技术对ESCC患者进行GA检测。对所有类别的GAs进行评估;绘制ESCC患者的GAs分布图;分析临床特征、预后与GAs的相关性。结果:长OS组与短OS组在性别、吸烟、辅助治疗等方面的分布均无偏倚。50例ESCC患者共检测到372个GAs,包括插入、缺失、拷贝数变异等7种类型的GAs,其中错义突变发生率最高,频率>50.0%。肿瘤蛋白53 (TP53;50/50, 100%)是整个队列中最常见的突变基因,其次是细胞周期蛋白D1、细胞周期蛋白依赖性激酶抑制剂2A (CDKN2A)和成纤维细胞生长因子19。短OS组比长OS组检测到更多的CDKN2A缺失(p = 0.098)。调整临床因素后的多因素分析结果显示,两组CDKN2A缺失量差异有统计学意义。从手术ESCC的癌症基因组图谱中获得的数据显示,CDKN2A缺失可能是ESCC术后患者预后较差的原因。结论:在进展性原发性ESCC患者中,不良的术后预后可能与CDKN2A基因缺失相关。
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来源期刊
Digestive Diseases
Digestive Diseases 医学-胃肠肝病学
CiteScore
4.80
自引率
0.00%
发文量
58
审稿时长
2 months
期刊介绍: Each issue of this journal is dedicated to a special topic of current interest, covering both clinical and basic science topics in gastrointestinal function and disorders. The contents of each issue are comprehensive and reflect the state of the art, featuring editorials, reviews, mini reviews and original papers. These individual contributions encompass a variety of disciplines including all fields of gastroenterology. ''Digestive Diseases'' bridges the communication gap between advances made in the academic setting and their application in patient care. The journal is a valuable service for clinicians, specialists and physicians-in-training.
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