Clinical utility of Todai OncoPanel in the setting of approved comprehensive cancer genomic profiling tests in Japan

被引：22

作者：

Kage, Hidenori ^{[1
,2
]}

Shinozaki-Ushiku, Aya ^{[3
,4
]}

Ishigaki, Kazunaga ^{[5
,6
]}

Sato, Yusuke ^{[7
]}

Tanabe, Masahiko ^{[8
]}

Tanaka, Shota ^{[9
]}

Tanikawa, Michihiro ^{[10
,11
]}

Watanabe, Kousuke ^{[2
,12
]}

Kato, Shingo ^{[13
]}

Akagi, Kiwamu ^{[14
]}

Uchino, Keita ^{[15
]}

Mitani, Kinuko ^{[16
]}

Takahashi, Shunji ^{[17
]}

Miura, Yuji ^{[18
,19
]}

Ikeda, Sadakatsu ^{[20
]}

Kojima, Yasushi ^{[21
]}

Watanabe, Kiyotaka ^{[22
]}

Mochizuki, Hitoshi ^{[23
]}

Yamaguchi, Hironori ^{[24
]}

Kawazoe, Yoshimasa ^{[25
,26
]}

Kashiwabara, Kosuke ^{[27
]}

Kohsaka, Shinji ^{[28
]}

Tatsuno, Kenji ^{[29
]}

Ushiku, Tetsuo ^{[4
]}

Ohe, Kazuhiko ^{[26
]}

Yatomi, Yutaka

Seto, Yasuyuki ^{[30
]}

Aburatani, Hiroyuki ^{[29
]}

Mano, Hiroyuki ^{[28
]}

Miyagawa, Kiyoshi ^{[31
]}

Oda, Katsutoshi ^{[3
,10
]}

机构：

[1] Univ Tokyo, Grad Sch Med, Next Generat Precis Med Dev Lab, Tokyo, Japan

[2] Univ Tokyo, Grad Sch Med, Dept Resp Med, Tokyo, Japan

[3] Univ Tokyo, Grad Sch Med, Div Integrat Genom, Tokyo, Japan

[4] Univ Tokyo, Grad Sch Med, Dept Pathol, Tokyo, Japan

[5] Univ Tokyo, Grad Sch Med, Dept Gastroenterol, Tokyo, Japan

[6] Univ Tokyo Hosp, Dept Chemotherapy, Tokyo, Japan

[7] Univ Tokyo, Grad Sch Med, Dept Urol, Tokyo, Japan

[8] Univ Tokyo, Grad Sch Med, Dept Breast & Endocrine Surg, Tokyo, Japan

[9] Univ Tokyo, Grad Sch Med, Dept Neurosurg, Tokyo, Japan

[10] Univ Tokyo, Grad Sch Med, Dept Obstet & Gynecol, 7-3-1 Hongo,Bunkyo Ku, Tokyo 8655, Japan

[11] Tokyo Metropolitan Canc & Infect Dis Ctr Komagome, Dept Gynecol, Tokyo, Japan

[12] Univ Tokyo Hosp, Dept Clin Lab, Tokyo, Japan

[13] Yokohama City Univ Med, Dept Clin Canc Genom, Kanagawa, Japan

[14] Saitama Canc Ctr, Dept Mol Diag & Canc Prevent, Saitama, Japan

[15] NTT Med Ctr Tokyo, Dept Med Oncol, Tokyo, Japan

[16] Dokkyo Med Univ, Dept Hematol & Oncol, Tochigi, Japan

[17] Japanese Fdn Canc Res, Canc Inst Hosp, Dept Med Oncol, Tokyo, Japan

[18] Toranomon Gen Hosp, Clin Genet Ctr, Dept Med Oncol, Tokyo, Japan

[19] Toranomon Gen Hosp, Clin Genet Ctr, Tokyo, Japan

[20] Tokyo Med & Dent Univ Hosp, Dept Precis Canc Med, Tokyo, Japan

[21] Natl Ctr Global Hlth & Med, Dept Gastroenterol, Tokyo, Japan

[22] Teikyo Univ, Sch Med, Dept Med, Tokyo, Japan

[23] Yamanashi Prefectural Cent Hosp, Genome Anal Ctr, Yamanashi, Japan

[24] Jichi Med Univ Hosp, Dept Clin Oncol, Tochigi, Japan

[25] Univ Tokyo, Dept Artificial Intelligence Healthcare, Tokyo, Japan

[26] Univ Tokyo Hosp, Dept Healthcare Informat Management, Tokyo, Japan

[27] Univ Tokyo Hosp, Clin Res Promot Ctr, Tokyo, Japan

[28] Natl Canc Ctr, Div Cellular Signaling, Tokyo, Japan

[29] Univ Tokyo, Genome Sci & Med Lab, RCAST, Tokyo, Japan

[30] Univ Tokyo, Dept Gastrointestinal Surg, Tokyo, Japan

[31] Univ Tokyo, Ctr Dis Biol & Integrat Med, Lab Mol Radiol, Tokyo, Japan

来源：

CANCER SCIENCE | 2023年 / 114卷 / 04期

关键词：

comprehensive genomic profiling; gene fusion; genomic medicine; germline finding; precision medicine;

D O I：

10.1111/cas.15717

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

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 TOP as part of Advanced Medical Care B with approval from the Ministry of Health, Labour and Welfare between September 2018 and December 2019. Tests were carried out 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 30 transcripts, 6 had treatment implications and 4 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).

引用

页码：1710 / 1717

页数：8

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