Molecular analysis of non-small cell lung cancer using a dual-targeted DNA and RNA comprehensive genomic profiling panel.

Kage, Hidenori; Kohsaka, Shinji; Tatsuno, Kenji; Watanabe, Kousuke; Shinozaki-Ushiku, Aya; Isago, Hideaki; Ushiku, Tetsuo; Aburatani, Hiroyuki; Mano, Hiroyuki; Oda, Katsutoshi

Kage, Hidenori; Kohsaka, Shinji; Tatsuno, Kenji; Watanabe, Kousuke; Shinozaki-Ushiku, Aya; Isago, Hideaki; Ushiku, Tetsuo; Aburatani, Hiroyuki; Mano, Hiroyuki; Oda, Katsutoshi.

Afiliación

Kage H; The Department of Respiratory Medicine, The University of Tokyo, 7-3-1 Hongo Bunkyo-ku, Tokyo, 113-8655, Japan. Electronic address: kageh@g.ecc.u-tokyo.ac.jp.
Kohsaka S; Division of Cellular Signaling, National Cancer Center Research Institute, 5-1-1 Tsukiji Chuo-ku, Tokyo, 104-0045, Japan.
Tatsuno K; Genome Science and Medicine Laboratory, RCAST, The University of Tokyo, 4-6-1 Komaba Meguro-ku, Tokyo, 153-8904, Japan.
Watanabe K; Department of Clinical Laboratory, The University Tokyo Hospital, 7-3-1 Hongo Bunkyo-ku, Tokyo, 113-8655, Japan.
Shinozaki-Ushiku A; Division of Integrative Genomics, Graduate School of Medicine, The University of Tokyo, 7-3-1 Hongo Bunkyo-ku, Tokyo, 113-8655, Japan.
Isago H; Department of Clinical Laboratory, The University Tokyo Hospital, 7-3-1 Hongo Bunkyo-ku, Tokyo, 113-8655, Japan.
Ushiku T; Department of Pathology, Graduate School of Medicine, The University of Tokyo, 7-3-1 Hongo Bunkyo-ku, Tokyo, 113-8655, Japan.
Aburatani H; Genome Science and Medicine Laboratory, RCAST, The University of Tokyo, 4-6-1 Komaba Meguro-ku, Tokyo, 153-8904, Japan.
Mano H; Division of Cellular Signaling, National Cancer Center Research Institute, 5-1-1 Tsukiji Chuo-ku, Tokyo, 104-0045, Japan.
Oda K; Division of Integrative Genomics, Graduate School of Medicine, The University of Tokyo, 7-3-1 Hongo Bunkyo-ku, Tokyo, 113-8655, Japan.

Respir Investig ; 62(5): 910-913, 2024 Aug 09.

Article en En | MEDLINE | ID: mdl-39126824

ABSTRACT

ABSTRACT

BACKGROUND:

Comprehensive cancer genomic profiling tests have recently been used clinically to guide optimal treatment. Currently approved tests use DNA from tissue or plasma samples to analyze a few hundred genes. RNA panels complement DNA panels to detect fusion and exon skipping.

METHODS:

Between April 2017 and March 2022, we analyzed non-small cell lung cancer samples using Todai OncoPanel, a matched tumor/normal pair panel targeting both DNA and RNA. Publicly available genomic data was downloaded from the Center for Cancer Genomics and Advanced Therapeutics database on 2022/11/3.

RESULTS:

Sixty non-small cell lung cancer (NSCLC) samples were analyzed. With the DNA panel, 32 samples (53%) had TP53 loss-of-function mutations. Among adenocarcinoma, 17 (33%) had EGFR activating mutations, and 6 (12%) had ERBB2 activating mutations. One BRCA1 and one BRCA2 pathogenic germline variant were also detected. With the RNA panel, 11 fusion genes were detected, all in adenocarcinoma. Specifically, EML4-ALK and KIF5B-RET were detected from one sample each, and 9 others were all novel fusions with unknown pathogenicity. In addition, 4 of 60 (7%) NSCLC samples harbored MET exon 14 skipping. Analysis of the Center for Cancer Genomics and Advanced Therapeutics database found 37 MET exon 14 splice site mutations in 1514 NSCLC samples (2%, p = 0.039).