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通过整合虚拟支气管镜导航和支气管内超声引导与高灵敏度下一代测序技术在具有挑战性活检的肺癌细胞学标本中成功检测突变:一例报告

Successful Mutation Detection in Cytological Specimens of Lung Cancer with Challenging Biopsies by Integrating Virtual Bronchoscopy Navigation and Endobronchial Ultrasound Guidance with Highly Sensitive Next-Generation Sequencing: A Case Report.

作者信息

Umeyama Yasuhiro, Soda Hiroshi, Senju Hiroaki, Ogata Ryosuke, Iwanaga Mizuki, Hayashi Hiroko, Taniguchi Hirokazu, Takemoto Shinnosuke, Takazono Takahiro, Sakamoto Noriho, Fukuda Yuichi, Mukae Hiroshi

机构信息

Department of Respiratory Medicine, Sasebo City General Hospital, Sasebo, Japan.

Department of Internal Medicine, Senju Hospital, Sasebo, Japan.

出版信息

Case Rep Oncol. 2024 Aug 5;17(1):865-873. doi: 10.1159/000540356. eCollection 2024 Jan-Dec.

DOI:10.1159/000540356
PMID:39144244
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11324274/
Abstract

INTRODUCTION

This case report presents the successful detection of an exon 19 deletion using virtual bronchoscopic navigation (VBN) and endobronchial ultrasound with guide sheath (EBUS-GS) brushing, integrated with highly sensitive next-generation sequencing (NGS), even in challenging biopsy scenarios. The growing prevalence of driver gene alterations in non-small cell lung cancer necessitates effective bronchoscopic technology and reliable multiplex gene NGS panels. However, data regarding the optimal bronchoscopic techniques when using highly sensitive NGS panels are limited. Herein, we report a case utilizing VBN-guided EBUS-GS brushing as an exploratory approach to address this challenge.

CASE PRESENTATION

A 71-year-old man was evaluated for a band-like lesion near the left pleura during spinal cord infarction. Transbronchial specimens were obtained from lesions invisible on conventional chest radiography and X-ray fluoroscopy using VBN and EBUS-GS brushing. Cytological brushing specimens revealed lung adenocarcinoma, and highly sensitive NGS identified an exon 19 deletion. He was diagnosed with stage IB disease and underwent radical radiotherapy owing to his fragile condition. If recurrence occurs, the patient will be treated with an EGFR inhibitor.

CONCLUSION

VBN-guided EBUS-GS brushing, a minimally invasive approach, combined with highly sensitive NGS has the potential to provide accurate molecular diagnoses to more patients with lung cancer, thereby offering opportunities for personalized treatment. Our findings warrant further investigation to determine optimal bronchoscopic technologies for obtaining tumor specimens.

摘要

引言

本病例报告展示了即使在具有挑战性的活检情况下,通过虚拟支气管镜导航(VBN)和带导向鞘的支气管内超声(EBUS-GS)刷检,并结合高灵敏度的新一代测序(NGS),成功检测到19号外显子缺失。非小细胞肺癌中驱动基因改变的患病率不断上升,这就需要有效的支气管镜技术和可靠的多重基因NGS检测板。然而,关于使用高灵敏度NGS检测板时的最佳支气管镜技术的数据有限。在此,我们报告一例利用VBN引导的EBUS-GS刷检作为探索性方法来应对这一挑战的病例。

病例介绍

一名71岁男性在脊髓梗死期间接受了左胸膜附近带状病变的评估。使用VBN和EBUS-GS刷检从传统胸部X线和X线透视下不可见的病变处获取经支气管标本。细胞学刷检标本显示为肺腺癌,高灵敏度NGS检测到19号外显子缺失。他被诊断为IB期疾病,由于身体状况脆弱,接受了根治性放疗。如果复发,患者将接受表皮生长因子受体(EGFR)抑制剂治疗。

结论

VBN引导的EBUS-GS刷检是一种微创方法,与高灵敏度NGS相结合,有可能为更多肺癌患者提供准确的分子诊断,从而为个性化治疗提供机会。我们的研究结果值得进一步研究,以确定获取肿瘤标本的最佳支气管镜技术。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6a8d/11324274/f5937786fb2c/cro-2024-0017-0001-540356_F05.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6a8d/11324274/d27af9075cee/cro-2024-0017-0001-540356_F01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6a8d/11324274/65f7d383cd8b/cro-2024-0017-0001-540356_F02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6a8d/11324274/a2d702fc3e5e/cro-2024-0017-0001-540356_F03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6a8d/11324274/7ff666c8a469/cro-2024-0017-0001-540356_F04.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6a8d/11324274/f5937786fb2c/cro-2024-0017-0001-540356_F05.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6a8d/11324274/d27af9075cee/cro-2024-0017-0001-540356_F01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6a8d/11324274/65f7d383cd8b/cro-2024-0017-0001-540356_F02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6a8d/11324274/a2d702fc3e5e/cro-2024-0017-0001-540356_F03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6a8d/11324274/7ff666c8a469/cro-2024-0017-0001-540356_F04.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6a8d/11324274/f5937786fb2c/cro-2024-0017-0001-540356_F05.jpg

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