Respiratory Medicine Case Reports (Jan 2023)

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

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

Journal volume & issue
Vol. 45
p. 101893

Abstract

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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.

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