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FoundationOne CDx在一名肺腺癌患者中检测到Oncomine Dx靶向检测未发现的外显子19缺失变异。

FoundationOne CDx detected an uncovered variant of exon 19 deletion by Oncomine Dx target test in a patient with lung adenocarcinoma.

作者信息

Takahashi Hiroki, Ogino Hirokazu, Bando Hiroki, Mitsuhashi Atsushi, Tsukazaki Yuki, Yabuki Yohei, Ozaki Ryohiko, Yoneda Hiroto, Sato Seidai, Hanibuchi Masaki, Nishioka Yasuhiko

机构信息

Department of Respiratory Medicine and Rheumatology, Graduate School of Biomedical Sciences, Tokushima University, 3-18-15, Kuramoto-cho, Tokushima, 770-8503, Japan.

Department of Internal Medicine, Anan Medical Center, 6-1, Kawahara, Takarada-cho, Anan-shi, Tokushima, 774-0045, Japan.

出版信息

Respir Med Case Rep. 2023 Jul 7;45:101893. doi: 10.1016/j.rmcr.2023.101893. eCollection 2023.

Abstract

A non-smoker woman with advanced lung adenocarcinoma was referred to us. The Oncomine Dx target test (ODxTT), a next-generation sequencing (NGS)-based hot spots panel test, did not detect any driver mutations, so we treated her with chemo-immunotherapy. After second-line chemotherapy, we performed FoundationOne CDx, a NGS-based comprehensive genomic profiling (CGP) test, and identified a rare variant of exon 19 deletion that had not been covered by ODxTT. This case highlights the importance of considering the indication of a CGP test for patients who are likely to harbor driver mutations, even when ODxTT fails to detect any.

摘要

一名患有晚期肺腺癌的非吸烟女性被转诊至我院。Oncomine Dx靶点检测(ODxTT)是一种基于二代测序(NGS)的热点区域检测,未检测到任何驱动基因突变,因此我们对她进行了化疗免疫治疗。二线化疗后,我们进行了FoundationOne CDx检测,这是一种基于NGS的全面基因组分析(CGP)检测,并发现了一个ODxTT未覆盖的19号外显子缺失的罕见变异。该病例凸显了对于可能携带驱动基因突变的患者,即使ODxTT未能检测到任何突变,考虑进行CGP检测的重要性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8bdc/10362299/631862dc7faa/gr1.jpg

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