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Clinical utility of comprehensive genomic profiling in Japan: Result of PROFILE-F study

発表形態:
原著論文
主要業績:
主要業績
単著・共著:
共著
発表年月:
2022年03月
DOI:
10.1371/journal.pone.0266112
会議属性:
指定なし
査読:
有り
リンク情報:

日本語フィールド

著者:
*Aoyagi Y, Kano Y, Tohyama K, Matsudera S, Kumaki Y, Takahashi K, Mitsumura T, Harada Y, Sato A, Nakamura H, Sueoka E, Aragane N, Kimura K, Onishi I, Takemoto A, Akahoshi K, Ono H, Ishikawa T, Tokunaga M, Nakagawa T, Oshima N, Nakamura R, Takagi M, Asakage T, Uetake H, Tanabe M, Miyake S, Kinugasa Y, Ikeda S
題名:
Clinical utility of comprehensive genomic profiling in Japan: Result of PROFILE-F study
発表情報:
PLoS One 巻: 17 号: 3 ページ: e0266112
キーワード:
概要:
Introduction: Clinical sequencing has provided molecular and therapeutic insights into the field of clinical oncology. However, despite its significance, its clinical utility in Japanese patients remains unknown. Here, we examined the clinical utility of tissue-based clinical sequencing with FoundationOne? CDx and FoundationOne? Heme. Between August 2018 and August 2019, 130 Japanese pretreated patients with advanced solid tumors were tested with FoundationOne? CDx or FoundationOne? Heme. Results: The median age of 130 patients was 60.5 years (range: 3 to 84 years), and among them, 64 were males and 66 were females. Major cancer types were gastrointestinal cancer (23 cases) and hepatic, biliary, and pancreatic cancer (21 cases). A molecular tumor board had been completed on all 130 cases by October 31, 2019. The median number of gene alterations detected by Foundation testing, excluding variants of unknown significance (VUS) was 4 (ranged 0 to 21) per case. Of the 130 cases, one or more alterations were found in 123 cases (94.6%), and in 114 cases (87.7%), actionable alterations with candidates for therapeutic agents were found. In 29 (22.3%) of them, treatment corresponding to the gene alteration was performed. Regarding secondary findings, 13 cases (10%) had an alteration suspected of a hereditary tumor. Of the 13 cases, only one case received a definite diagnosis of hereditary tumor. Conclusions: Our study showed that clinical sequencing might be useful for detecting gene alterations in various cancer types and exploring treatment options. However, many issues still need to be improved.
抄録:

英語フィールド

Author:
*Aoyagi Y, Kano Y, Tohyama K, Matsudera S, Kumaki Y, Takahashi K, Mitsumura T, Harada Y, Sato A, Nakamura H, Sueoka E, Aragane N, Kimura K, Onishi I, Takemoto A, Akahoshi K, Ono H, Ishikawa T, Tokunaga M, Nakagawa T, Oshima N, Nakamura R, Takagi M, Asakage T, Uetake H, Tanabe M, Miyake S, Kinugasa Y, Ikeda S
Title:
Clinical utility of comprehensive genomic profiling in Japan: Result of PROFILE-F study
Announcement information:
PLoS One Vol: 17 Issue: 3 Page: e0266112
An abstract:
Introduction: Clinical sequencing has provided molecular and therapeutic insights into the field of clinical oncology. However, despite its significance, its clinical utility in Japanese patients remains unknown. Here, we examined the clinical utility of tissue-based clinical sequencing with FoundationOne? CDx and FoundationOne? Heme. Between August 2018 and August 2019, 130 Japanese pretreated patients with advanced solid tumors were tested with FoundationOne? CDx or FoundationOne? Heme. Results: The median age of 130 patients was 60.5 years (range: 3 to 84 years), and among them, 64 were males and 66 were females. Major cancer types were gastrointestinal cancer (23 cases) and hepatic, biliary, and pancreatic cancer (21 cases). A molecular tumor board had been completed on all 130 cases by October 31, 2019. The median number of gene alterations detected by Foundation testing, excluding variants of unknown significance (VUS) was 4 (ranged 0 to 21) per case. Of the 130 cases, one or more alterations were found in 123 cases (94.6%), and in 114 cases (87.7%), actionable alterations with candidates for therapeutic agents were found. In 29 (22.3%) of them, treatment corresponding to the gene alteration was performed. Regarding secondary findings, 13 cases (10%) had an alteration suspected of a hereditary tumor. Of the 13 cases, only one case received a definite diagnosis of hereditary tumor. Conclusions: Our study showed that clinical sequencing might be useful for detecting gene alterations in various cancer types and exploring treatment options. However, many issues still need to be improved.


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