Haiping Zhang, Julei Wang, Xiaoxiao Li, Dongfeng Zhang, Yingxue Qi, Qin Zhang, Ningning Luo, Xiaoou Wang, Tuo Wang
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引用次数: 0
摘要
背景:表皮生长因子受体(EGFR)融合是多种实体瘤中罕见但具有潜在作用的致癌因素。然而,表皮生长因子受体融合在中国实体瘤恶性肿瘤患者中的分布和分子特征尚未得到研究:方法:从先声诊断(中国南京)数据库中收集并分析了35023名各类实体瘤患者的基于面板的新一代测序(NGS)数据。从癌症基因组图谱(The Cancer Genome Atlas,TCGA)中提取了9563名患者的队列,以探讨表皮生长因子受体(EGFR)融合状态与总生存期(OS)之间的关系:在这项研究中,功能性表皮生长因子受体融合在所有实体瘤中的发生率为0.303%(106/35023),更常见于胃食管交界癌(1/61,1.613%),其次是髓母细胞瘤(1/66,1.515%)和胶质瘤(33/2409,1.370%)。分析表明,在不同肿瘤类型中,融合伙伴的发生率不同。与表皮生长因子受体融合的前三位共突变基因分别是TP53(突变频率,MF:65%)、BRCA2(MF:43%)和ALK(MF:41%)。此外,表皮生长因子受体融合组患者的 OS 明显短于非表皮生长因子受体融合组患者(P 结论:表皮生长因子受体融合组患者的 OS 明显短于非表皮生长因子受体融合组患者):我们的研究是首次在大规模实体瘤人群中对表皮生长因子受体(EGFR)融合进行的回顾性分析,可为今后进行表皮生长因子受体(EGFR)融合的EGFR-TKI临床试验提供参考。
Distribution of EGFR fusions in 35,023 Chinese patients with solid tumors-the frequency, fusion partners and clinical outcome.
Background: Epidermal growth factor receptor (EGFR) fusions are rare but potentially actionable oncogenic drivers across multiple solid tumors. However, the distribution and molecular characteristics of EGFR fusions in Chinese patients with solid malignancies have not been explored.
Methods: Panel-based next-generation sequencing (NGS) data of 35,023 patients with various types of solid tumors was collected and analyzed from the Simcere Diagnostics (Nanjing, China) database. A 9563-patient cohort was derived from The Cancer Genome Atlas (TCGA) to explore the relationship between EGFR fusion status and overall survival (OS).
Results: In this study, prevalence of functional EGFR fusions was 0.303% (106/35,023) in total across solid tumors, which occur more commonly in gastroesophageal junction cancer (1/61, 1.613%), followed by medulloblastoma (1/66, 1.515%) and glioma (33/2409, 1.370%). Analysis showed a prevalence for fusion partners in different tumor types. The top 3 co-mutant genes with EGFR fusion were TP53 (mutation frequency, MF: 65%), BRCA2 (MF: 43%), and ALK (MF: 41%). Furthermore, patients in the EGFR fusion group had a significantly shorter OS than those in the non-EGFR fusion group (p < 0.0001) in the TCGA cohort, suggesting that EGFR fusion might be a high-risk factor for poor prognosis.
Conclusions: Our study is the first retrospective analysis of EGFR fusions in a large-scale solid tumor population, which may provide a reference for future EGFR-TKI clinical trials with EGFR fusions.
期刊介绍:
World Journal of Surgical Oncology publishes articles related to surgical oncology and its allied subjects, such as epidemiology, cancer research, biomarkers, prevention, pathology, radiology, cancer treatment, clinical trials, multimodality treatment and molecular biology. Emphasis is placed on original research articles. The journal also publishes significant clinical case reports, as well as balanced and timely reviews on selected topics.
Oncology is a multidisciplinary super-speciality of which surgical oncology forms an integral component, especially with solid tumors. Surgical oncologists around the world are involved in research extending from detecting the mechanisms underlying the causation of cancer, to its treatment and prevention. The role of a surgical oncologist extends across the whole continuum of care. With continued developments in diagnosis and treatment, the role of a surgical oncologist is ever-changing. Hence, World Journal of Surgical Oncology aims to keep readers abreast with latest developments that will ultimately influence the work of surgical oncologists.