In Cancer science
Comprehensive cancer genome profiling (CGP) has been nationally reimbursed in Japan since June 2019. Less than 10% of the patients have been reported to undergo recommended treatment. Todai OncoPanel (TOP) is a dual DNA-RNA panel as well as a paired tumor-normal matched test. Two hundred patients underwent Todai OncoPanel as part of Advanced Medical Care B with approval by the Ministry of Health, Labour and Welfare between September 2018 and December 2019. Tests were performed in patients with cancers without standard treatment or when patients had already undergone standard treatment. Data from DNA and RNA panels were analyzed in 198 and 191 patients, respectively. The percentage of patients who were given therapeutic or diagnostic recommendations was 61% (120/198). One hundred and four samples (53%) harbored gene alterations that were detected with the DNA panel and had potential treatment implications, and 14 samples (7%) had a high tumor mutational burden. Twenty-two samples (11.1%) harbored 30 fusion transcripts or MET exon 14 skipping that were detected by the RNA panel. Of those thirty transcripts, six had treatment implications and four had diagnostic implications. Thirteen patients (7%) were found to have pathogenic or likely pathogenic germline variants and genetic counseling was recommended. Overall, 12 patients (6%) received recommended treatment. In summary, patients benefited from both TOP DNA and RNA panels while following the same indication as the approved CGP tests. (UMIN000033647).
Kage Hidenori, Shinozaki-Ushiku Aya, Ishigaki Kazunaga, Sato Yusuke, Tanabe Masahiko, Tanaka Shota, Tanikawa Michihiro, Watanabe Kousuke, Kato Shingo, Akagi Kiwamu, Uchino Keita, Mitani Kinuko, Takahashi Shunji, Miura Yuji, Ikeda Sadakatsu, Kojima Yasushi, Watanabe Kiyotaka, Mochizuki Hitoshi, Yamaguchi Hironori, Kawazoe Yoshimasa, Kashiwabara Kosuke, Kohsaka Shinji, Tatsuno Kenji, Ushiku Tetsuo, Ohe Kazuhiko, Yatomi Yutaka, Seto Yasuyuki, Aburatani Hiroyuki, Mano Hiroyuki, Miyagawa Kiyoshi, Oda Katsutoshi
2023-Jan-05
comprehensive genomic profiling, gene fusion, genomic medicine, germline finding, precision medicine
