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

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 F...

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Detalles Bibliográficos
Autores principales: Takahashi, Hiroki, Ogino, Hirokazu, Bando, Hiroki, Mitsuhashi, Atsushi, Tsukazaki, Yuki, Yabuki, Yohei, Ozaki, Ryohiko, Yoneda, Hiroto, Sato, Seidai, Hanibuchi, Masaki, Nishioka, Yasuhiko
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10362299/
https://www.ncbi.nlm.nih.gov/pubmed/37485237
http://dx.doi.org/10.1016/j.rmcr.2023.101893
Descripción
Sumario: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 epidermal growth factor receptor 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.