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Biology
基于扩增子的超快速二代测序在非鳞状非小细胞肺癌中的应用
基于扩增子的超快速二代测序在非鳞状非小细胞肺癌中的应用
JoVE Journal
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JoVE Journal Biology
Ultra-Fast Amplicon-Based Next-Generation Sequencing in Non-Squamous Non-Small Cell Lung Cancer

基于扩增子的超快速二代测序在非鳞状非小细胞肺癌中的应用

Full Text
1,786 Views
07:59 min
September 8, 2023

DOI: 10.3791/65190-v

Christophe Bontoux1,2,3,4,5, Virginie Lespinet-Fabre1,2,3,4, Olivier Bordone1,2,3,4, Virginie Tanga1,2,3,4, Maryline Allegra1,2,3,4, Myriam Salah1,2,3,4, Salomé Lalvée1,2,3,4, Samantha Goffinet1,2,3,4, Jonathan Benzaquen3,4,5,6, Charles-Hugo Marquette3,4,5,6, Marius Ilié1,2,3,4,5, Véronique Hofman1,2,3,4,5, Paul Hofman1,2,3,4,5

1Laboratory of Clinical and Experimental Pathology, Centre Hospitalier Universitaire de Nice,Université Côte d’Azur, CHU de Nice, 2Hospital-Integrated Biobank (BB-0033-00025),Université Côte d'Azur, Hôpital Pasteur, CHU de Nice, 3Institut Hospitalo-Universitaire (IHU), RespirERA,Université Côte d'Azur, Hôpital Pasteur, CHU de Nice, 4FHU OncoAge,Université Côte d'Azur, 5Team 4, Institute of Research on Cancer and Aging (IRCAN), CNRS INSERM, Centre Antoine-Lacassagne,Université Côte d'Azur, 6Department of Pulmonary Medicine and Thoracic Oncology, Centre Hospitalier Universitaire de Nice,Université Côte d'Azur

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Please note that some of the translations on this page are AI generated. Click here for the English version.

Overview

This study addresses the urgent need for rapid detection of genomic alterations in non-squamous non-small cell lung cancer (NS-NSCLC) to inform targeted therapies. An ultra-fast next-generation sequencing (NGS) workflow is presented as a solution for efficient analysis of small biopsy samples.

Key Study Components

Research Area

  • Oncology
  • Molecular diagnostics
  • Next-generation sequencing

Background

  • Targeted therapies for NS-NSCLC depend on timely detection of genomic alterations.
  • Traditional biopsy methods often yield small samples, complicating analysis.
  • A comprehensive approach for rapid testing is needed to enhance patient care.

Methods Used

  • Ultra-fast next-generation sequencing (NGS)
  • Analysis of formalin-fixed paraffin-embedded (FFPE) samples
  • Automated purification and sequencing processes

Main Results

  • The workflow identifies key genetic mutations and fusions in a time-efficient manner.
  • High sensitivity for detecting various genomic alterations was achieved.
  • Comprehensive molecular profiling was performed on 259 NS-NSCLC patients.

Conclusions

  • This study demonstrates a new standard for rapid genomic profiling in NS-NSCLC.
  • It provides critical insights for personalized treatment strategies in oncology.

Frequently Asked Questions

What are the advantages of the ultra-fast NGS workflow?
The ultra-fast NGS workflow allows for rapid detection of genetic mutations in small biopsy samples, minimizing the time to diagnosis and treatment.
How many patients were analyzed in this study?
A total of 259 patients with non-squamous non-small cell lung cancer were included in the analysis.
What sample types were used for this analysis?
The study utilized various biopsy types and surgical specimens, including formalin-fixed paraffin-embedded (FFPE) tissues.
What are the implications of this research for lung cancer treatment?
The findings support the development of rapid genomic profiling methods that can inform targeted therapy decisions, improving patient outcomes.
What methodologies are compared in this study?
The study compares traditional molecular testing methods, such as RT-PCR and fluorescence in situ hybridization, with the proposed NGS approach.
What is the primary goal of the proposed NGS workflow?
The primary goal is to enable timely and comprehensive genomic profiling for optimal therapy selection in NS-NSCLC patients.

用于非鳞状非小细胞肺癌 (NS-NSCLC) 护理管理的分子生物标志物的增加促使了快速可靠的分子检测方法的发展。我们描述了使用超快速下一代测序 (NGS) 方法对 NS-NSCLC 患者进行基因组改变评估的工作流程。

如今,非小细胞肺癌的靶向治疗需要快速检测多种基因组改变。因此,这对于最佳护理至关重要,因为胸腔活检通常很小,并且含有很少的肿瘤细胞。因此,我们提出了一种超快速的下一代测序工作流程,用于病理学实验室的常规非小细胞肺癌诊断。

目前,使用不同panel尺寸的靶向NGS、使用RT-PCR的单基因测序测试、数字PCR、荧光原位杂交和免疫组化是用于检测分子改变的不同方法。然而,这些方法中的大多数可能会耗费时间和组织材料,导致诊断延迟,并存在组织劳累的风险。挑战在于有效地检测多种分子改变,同时节省材料并回答加速诊断。

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基于超快速扩增子的二代测序 非鳞状非小细胞肺癌 分子改变 靶向治疗 分子异常检测 晚期或转移性NS-NSCLC 靶向治疗 总生存期 耐药机制 新型疗法 治疗反应 分子表征 短周转时间 (TAT) 国际指南 组织活检 基因组分析 侵入性较小的方法和方案 病理学家 高效和快速诊断策略

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