The frequency of mutations in advanced thyroid cancer in Japan: a single-center study
We analyzed the outcomes of genetic testing to study the frequency of mutations in advanced thyroid cancer in Japan. Patients (n = 96) with unresectable or metastatic thyroid carcinoma were included for retrospective chart review. Results of gene panel testing, which was performed between May 2020 a...
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| Format: | Article |
| Language: | English |
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The Japan Endocrine Society
2024-01-01
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| Series: | Endocrine Journal |
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| Online Access: | https://www.jstage.jst.go.jp/article/endocrj/71/1/71_EJ23-0342/_html/-char/en |
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| author | Soji Toda Hiroyuki Iwasaki Yoichiro Okubo Hiroyuki Hayashi Mei Kadoya Hiroyuki Takahashi Tomoyuki Yokose Yukihiko Hiroshima Katsuhiko Masudo |
| author_facet | Soji Toda Hiroyuki Iwasaki Yoichiro Okubo Hiroyuki Hayashi Mei Kadoya Hiroyuki Takahashi Tomoyuki Yokose Yukihiko Hiroshima Katsuhiko Masudo |
| author_sort | Soji Toda |
| collection | DOAJ |
| description | We analyzed the outcomes of genetic testing to study the frequency of mutations in advanced thyroid cancer in Japan. Patients (n = 96) with unresectable or metastatic thyroid carcinoma were included for retrospective chart review. Results of gene panel testing, which was performed between May 2020 and April 2023, were analyzed. The median age of the patients was 73.5 years (range, 17–88); 59 were women, and 39 were men. Overall, 17 patients had anaplastic thyroid carcinoma (ATC), 68 had papillary thyroid carcinoma (PTC), 7 had follicular thyroid carcinoma, and 6 had poorly differentiated thyroid carcinoma (PDTC). Of the 81 patients with differentiated thyroid carcinoma (DTC) and PDTC, 88.9% were radioactive iodine-refractory, and 32.7% of all cases had previously been treated with multiple kinase inhibitors. Of ATC cases, 52.9% had BRAF mutations, and 5.9% had RET fusion. Of PTC cases, 83.1% had BRAF mutations, 9.2% had RET fusion, and 1.5% had NTRK fusion. One case each of ATC and PTC had a tumor mutation burden of ≥10. ATC cases had a significantly higher prevalence of TP53 alterations than the other cases (82.3% vs. 11.8%), whereas the frequencies of TERT promoter mutations were 88.2% in ATC cases and 64.7% in the other cases, albeit without a significant difference. In conclusion, 58.8% of ATC, 93.8% of PTC, and 42.9% of PDTC had genetic alterations linked to therapeutic agents. Active gene panel testing is required to increase treatment options. |
| format | Article |
| id | doaj-art-8937867933924636a22abe4e8c218fd9 |
| institution | Kabale University |
| issn | 1348-4540 |
| language | English |
| publishDate | 2024-01-01 |
| publisher | The Japan Endocrine Society |
| record_format | Article |
| series | Endocrine Journal |
| spelling | doaj-art-8937867933924636a22abe4e8c218fd92025-01-22T06:31:09ZengThe Japan Endocrine SocietyEndocrine Journal1348-45402024-01-01711313710.1507/endocrj.EJ23-0342endocrjThe frequency of mutations in advanced thyroid cancer in Japan: a single-center studySoji Toda0Hiroyuki Iwasaki1Yoichiro Okubo2Hiroyuki Hayashi3Mei Kadoya4Hiroyuki Takahashi5Tomoyuki Yokose6Yukihiko Hiroshima7Katsuhiko Masudo8Department of Endocrine Surgery, Kanagawa Cancer Center, Kanagawa 241-8515, JapanDepartment of Endocrine Surgery, Kanagawa Cancer Center, Kanagawa 241-8515, JapanDepartment of Pathology, Kanagawa Cancer Center, Kanagawa 241-8515, JapanDepartment of Pathology, Yokohama Municipal Citizen’s Hospital, Kanagawa 221-0855, JapanDepartment of Endocrine Surgery, Kanagawa Cancer Center, Kanagawa 241-8515, JapanDepartment of Hematology and Medical Oncology, Kanagawa Cancer Center, Kanagawa 241-8515, JapanDepartment of Pathology, Kanagawa Cancer Center, Kanagawa 241-8515, JapanDepartment of Cancer Genome Medicine, Kanagawa Cancer Center, Kanagawa 241-8515, JapanDepartment of Endocrine Surgery, Kanagawa Cancer Center, Kanagawa 241-8515, JapanWe analyzed the outcomes of genetic testing to study the frequency of mutations in advanced thyroid cancer in Japan. Patients (n = 96) with unresectable or metastatic thyroid carcinoma were included for retrospective chart review. Results of gene panel testing, which was performed between May 2020 and April 2023, were analyzed. The median age of the patients was 73.5 years (range, 17–88); 59 were women, and 39 were men. Overall, 17 patients had anaplastic thyroid carcinoma (ATC), 68 had papillary thyroid carcinoma (PTC), 7 had follicular thyroid carcinoma, and 6 had poorly differentiated thyroid carcinoma (PDTC). Of the 81 patients with differentiated thyroid carcinoma (DTC) and PDTC, 88.9% were radioactive iodine-refractory, and 32.7% of all cases had previously been treated with multiple kinase inhibitors. Of ATC cases, 52.9% had BRAF mutations, and 5.9% had RET fusion. Of PTC cases, 83.1% had BRAF mutations, 9.2% had RET fusion, and 1.5% had NTRK fusion. One case each of ATC and PTC had a tumor mutation burden of ≥10. ATC cases had a significantly higher prevalence of TP53 alterations than the other cases (82.3% vs. 11.8%), whereas the frequencies of TERT promoter mutations were 88.2% in ATC cases and 64.7% in the other cases, albeit without a significant difference. In conclusion, 58.8% of ATC, 93.8% of PTC, and 42.9% of PDTC had genetic alterations linked to therapeutic agents. Active gene panel testing is required to increase treatment options.https://www.jstage.jst.go.jp/article/endocrj/71/1/71_EJ23-0342/_html/-char/enthyroid cancergene panel testfusion genebrafret |
| spellingShingle | Soji Toda Hiroyuki Iwasaki Yoichiro Okubo Hiroyuki Hayashi Mei Kadoya Hiroyuki Takahashi Tomoyuki Yokose Yukihiko Hiroshima Katsuhiko Masudo The frequency of mutations in advanced thyroid cancer in Japan: a single-center study Endocrine Journal thyroid cancer gene panel test fusion gene braf ret |
| title | The frequency of mutations in advanced thyroid cancer in Japan: a single-center study |
| title_full | The frequency of mutations in advanced thyroid cancer in Japan: a single-center study |
| title_fullStr | The frequency of mutations in advanced thyroid cancer in Japan: a single-center study |
| title_full_unstemmed | The frequency of mutations in advanced thyroid cancer in Japan: a single-center study |
| title_short | The frequency of mutations in advanced thyroid cancer in Japan: a single-center study |
| title_sort | frequency of mutations in advanced thyroid cancer in japan a single center study |
| topic | thyroid cancer gene panel test fusion gene braf ret |
| url | https://www.jstage.jst.go.jp/article/endocrj/71/1/71_EJ23-0342/_html/-char/en |
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