多项目混合基因测序提升肿瘤诊疗时效性的可行性探讨

doi:10.3969/j.issn.1009-976X.2025.03.007

岭南现代临床外科 ›› 2025, Vol. 25 ›› Issue (03): 184-189.DOI: 10.3969/j.issn.1009-976X.2025.03.007

多项目混合基因测序提升肿瘤诊疗时效性的可行性探讨

黄靖华¹, 骆嘉欢¹, 孙熹¹, 萧晓琴¹, 蒋圆玲¹, 黄永胜^1,2, 廖健伟^1,2,*

1.中山大学孙逸仙纪念医院细胞分子诊断中心,广州 510120;
2.广东省恶性肿瘤表观遗传与基因调控重点实验室,广州 510120

通讯作者: * 廖健伟,Email:liaojw8@mail.sysu.edu.cn
基金资助:
广州市科技计划项目资助（2023A04J2103）,广东省基础与应用基础研究基金（2021A1515111138）

Study on the feasibility of improving the timeliness of diagnosis and treatment of tumors through multi-project and multi-sample hybrid gene sequencing technology

HUANG Jing-hua¹, LUO Jia-huan¹, SUN Xi¹, XIAO Xiao-qin¹, JIANG Yuan-ling¹, HUANG Yong-sheng^1,2, LIAO Jian-wei^1,2

1. Cellular & Molecular Diagnostics Center, Sun Yat-sen Memorial Hospital, Sun Yat-sen University, Guangzhou 510120, China;
2. Guangdong Provincial Key Laboratory of Malignant Tumor Epigenetics and Gene Regulation, Guangzhou 510120, China

Accepted:2025-04-25 Online:2025-06-20 Published:2025-08-14
Contact: LIAO Jian-wei, liaojw8@mail.sysu.edu.cn

摘要/Abstract

摘要： 目的对多次混合上机测序的肿瘤标本数据进行回顾性分析,探索通过多项目多样本混合测序提升临床肿瘤诊疗时效性的可行性。方法通过对WES文库与肿瘤基因测序文库基于NovaSeq 6000dx测序平台混合上机测序时的测序质控数据与检测结果进行分析,验证多项目混合基因测序提升肿瘤诊疗时效性的可行性。结果 24批混合上机测序中,平均簇通过率为77.92%,平均预期下机数据量为633.22 Gb,平均Q30为91.33%,均符合质控标准。753例全外显子测序（Whole Exome Sequencing, WES）文库与164例肿瘤多基因测序文库的单个样本数据量、平均测序深度及测序深度>20×的占比均符合质控标准。同一样本在不同批次的混合测序中的检测结果差异无统计学意义（P=0.125）。采用多项目混合基因测序后临床基因检测周期显著缩短,主要表现为测序频次减少。结论通过多项目多样本混合上机测序,可提高肿瘤诊疗中基因检测报告的时效性。

关键词: 混合上机测序, 基因检测, 肿瘤治疗

Abstract: Objective To conduct a retrospective analysis of multi-project and multi-sample sequencing in tumor samples, and to explore the feasibility of improving the timeliness of clinical tumor diagnosis and treatment. Methods This study mainly verified the feasibility of improving the timeliness of tumor diagnosis and treatment through multi-project mixed gene sequencing by analyzing the sequencing quality control data and detection results when WES libraries and tumor gene sequencing libraries were sequenced on the NovaSeq 6000dx sequencing platform. Results In 24 batches of pooled sequencing, the average cluster pass rate was 77.92%, the average expected data output was 633.22 Gb, and the average Q30 was 91.33%, all of which met the quality control standards. For the 753 whole exome sequencing （WES） libraries and 164 tumor multi-gene sequencing libraries, the individual sample data volume, average sequencing depth, and the proportion of sequencing depth >20× all met the quality control standards. No statistically significant differences were found in the detection results of the same sample in different batches of hybrid sequencing （P=0.125）. The turnaround time for clinical gene test reports was significantly shortened after adopting hybrid gene sequencing, mainly characterized by a reduced sequencing frequency. Conclusion Multi-project and multi-sample libraries can be sequenced using hybrid sequencing to improve the timeliness of gene testing reports in tumor diagnosis and treatment.

Key words: hybrid gene sequencing, gene testing, cancer therapy

中图分类号:

R730.49

黄靖华, 骆嘉欢, 孙熹, 萧晓琴, 蒋圆玲, 黄永胜, 廖健伟. 多项目混合基因测序提升肿瘤诊疗时效性的可行性探讨[J]. 岭南现代临床外科, 2025, 25(03): 184-189.

HUANG Jing-hua, LUO Jia-huan, SUN Xi, XIAO Xiao-qin, JIANG Yuan-ling, HUANG Yong-sheng, LIAO Jian-wei. Study on the feasibility of improving the timeliness of diagnosis and treatment of tumors through multi-project and multi-sample hybrid gene sequencing technology[J]. Lingnan Modern Clinics In Surgery, 2025, 25(03): 184-189.

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多项目混合基因测序提升肿瘤诊疗时效性的可行性探讨

Study on the feasibility of improving the timeliness of diagnosis and treatment of tumors through multi-project and multi-sample hybrid gene sequencing technology

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