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转染过程中重排:荧光原位杂交检测重排与非小细胞肺癌中其他技术的比较

Rearranged During Transfection Rearrangement Detection by Fluorescence In Situ Hybridization Compared With Other Techniques in NSCLC.

作者信息

Mc Leer Anne, Mondet Julie, Magnat Nelly, Mersch Mailys, Giovannini Diane, Emprou Camille, Toffart Anne-Claire, Sturm Nathalie, Lantuéjoul Sylvie, Benito David

机构信息

Université Grenoble Alpes, Grenoble, France.

Service d'Anatomie et Cytologie Pathologiques, Pôle de Biologie et Pathologie, CHU Grenoble Alpes, Grenoble, France.

出版信息

JTO Clin Res Rep. 2024 Aug 29;5(12):100714. doi: 10.1016/j.jtocrr.2024.100714. eCollection 2024 Dec.

DOI:10.1016/j.jtocrr.2024.100714
PMID:39507413
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11539407/
Abstract

INTRODUCTION

rearrangements occur in 1% to 2% NSCLCs. Since no clinically validated RET antibody is currently available, fluorescence in situ hybridization (FISH) is often used as a screening tool to identify patients likely to benefit from RET-targeted therapy. In this study, we performed a comprehensive review of publications in which -rearrangement testing was performed by FISH and compared the methods and results with our data.

METHODS

The findings of an electronic search for publications using -FISH in lung cancer were compared with the results obtained at the Grenoble University Hospital where 784 , , -, and -negative NSCLCs were tested by break-apart FISH and confirmed by RNA-sequencing (RNA-seq).

RESULTS

Out of the 85 publications using -FISH analysis, 52 pertained to patients with lung cancer. The most often used positivity threshold was 15%. Six publications compared -FISH with at least one other molecular technique on at least eight samples, and the concordance was variable, from 5.9% to 66.7% for FISH-positive cases. Regarding our data, out of the 784 analyzed samples, 32 (4%) were positive by -FISH. The concordance between -FISH and RNA-seq in -FISH positive samples was 69%.

CONCLUSIONS

Overall, both existing literature and our data suggest that -FISH testing can be used for rapid screening of rearrangements in NSCLC. Nevertheless, using an orthogonal technique such as RNA-seq to confirm -FISH-positive cases is essential for ensuring that only patients likely to benefit from -target therapy receive the treatment.

摘要

引言

重排在1%至2%的非小细胞肺癌(NSCLC)中发生。由于目前尚无经临床验证的RET抗体,荧光原位杂交(FISH)常被用作筛选工具,以识别可能从RET靶向治疗中获益的患者。在本研究中,我们对通过FISH进行重排检测的出版物进行了全面综述,并将方法和结果与我们的数据进行了比较。

方法

将使用肺癌-FISH的出版物的电子搜索结果与格勒诺布尔大学医院获得的结果进行比较,在该医院,784例 、 、 -和 -阴性的NSCLC通过断裂FISH检测,并通过RNA测序(RNA-seq)进行确认。

结果

在85篇使用-FISH分析的出版物中,52篇涉及肺癌患者。最常用的阳性阈值为15%。6篇文章在至少8个样本上将-FISH与至少一种其他分子技术进行了比较,FISH阳性病例的一致性各不相同,从5.9%到66.7%不等。关于我们的数据,在784个分析样本中,32个(4%)通过-FISH呈阳性。-FISH阳性样本中-FISH与RNA-seq之间的一致性为69%。

结论

总体而言,现有文献和我们的数据均表明,-FISH检测可用于NSCLC中重排的快速筛查。然而,使用诸如RNA-seq等正交技术来确认-FISH阳性病例对于确保只有可能从-靶向治疗中获益的患者接受治疗至关重要。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/11d4/11539407/dac0935a8d04/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/11d4/11539407/1444ea1017e6/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/11d4/11539407/2793325025e5/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/11d4/11539407/dac0935a8d04/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/11d4/11539407/1444ea1017e6/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/11d4/11539407/2793325025e5/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/11d4/11539407/dac0935a8d04/gr3.jpg

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本文引用的文献

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Selpercatinib in Patients With Fusion-Positive Non-Small-Cell Lung Cancer: Updated Safety and Efficacy From the Registrational LIBRETTO-001 Phase I/II Trial.塞尔帕替尼治疗融合阳性非小细胞肺癌患者的安全性和疗效更新:来自注册研究 LIBRETTO-001 Ⅰ/Ⅱ期的结果
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Safety and efficacy of pralsetinib in RET fusion-positive non-small-cell lung cancer including as first-line therapy: update from the ARROW trial.
普拉替尼治疗 RET 融合阳性非小细胞肺癌(包括一线治疗)的安全性和疗效:ARROW 试验的更新结果。
Ann Oncol. 2022 Nov;33(11):1168-1178. doi: 10.1016/j.annonc.2022.08.002. Epub 2022 Aug 13.
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Clinicopathologic characteristics and diagnostic methods of rearrangement in Chinese non-small cell lung cancer patients.中国非小细胞肺癌患者重排的临床病理特征及诊断方法
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The role of next-generation sequencing in detecting gene fusions with known and unknown partners: a single-center experience with methodologies' integration.新一代测序在检测已知和未知伙伴基因融合中的作用:多方法整合的单中心经验
Hum Pathol. 2022 May;123:20-30. doi: 10.1016/j.humpath.2022.02.005. Epub 2022 Feb 15.
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JTO Clin Res Rep. 2020 Mar 30;1(2):100037. doi: 10.1016/j.jtocrr.2020.100037. eCollection 2020 Jun.
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