The frequency of mutations in advanced thyroid cancer in Japan: a single-center study.

IF 1.3 4区 医学 Q4 ENDOCRINOLOGY & METABOLISM
Endocrine journal Pub Date : 2024-01-29 Epub Date: 2023-12-01 DOI:10.1507/endocrj.EJ23-0342
Soji Toda, Hiroyuki Iwasaki, Yoichiro Okubo, Hiroyuki Hayashi, Mei Kadoya, Hiroyuki Takahashi, Tomoyuki Yokose, Yukihiko Hiroshima, Katsuhiko Masudo
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Abstract

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.

日本晚期甲状腺癌的突变频率:单中心研究。
我们分析了基因检测的结果,以研究日本晚期甲状腺癌的突变频率。不可切除或转移性甲状腺癌患者(n = 96)纳入回顾性图表回顾。对2020年5月至2023年4月期间进行的基因面板检测结果进行了分析。患者的中位年龄为73.5岁(范围17-88岁);其中女性59人,男性39人。其中17例为间变性甲状腺癌(ATC), 68例为乳头状甲状腺癌(PTC), 7例为滤泡性甲状腺癌(滤泡性甲状腺癌),6例为低分化甲状腺癌(PDTC)。在81例分化型甲状腺癌(DTC)和PDTC患者中,88.9%是放射性碘难治性的,32.7%的患者之前曾接受过多种激酶抑制剂的治疗。在ATC病例中,52.9%有BRAF突变,5.9%有RET融合。在PTC病例中,83.1%有BRAF突变,9.2%有RET融合,1.5%有NTRK融合。ATC和PTC各1例肿瘤突变负荷≥10。ATC病例的TP53改变发生率明显高于其他病例(82.3%对11.8%),而TERT启动子突变频率在ATC病例中为88.2%,在其他病例中为64.7%,尽管没有显著差异。综上所述,58.8%的ATC、93.8%的PTC和42.9%的PDTC存在与治疗药物相关的遗传改变。主动基因面板测试是增加治疗选择的必要条件。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Endocrine journal
Endocrine journal 医学-内分泌学与代谢
CiteScore
4.30
自引率
5.00%
发文量
224
审稿时长
1.5 months
期刊介绍: Endocrine Journal is an open access, peer-reviewed online journal with a long history. This journal publishes peer-reviewed research articles in multifaceted fields of basic, translational and clinical endocrinology. Endocrine Journal provides a chance to exchange your ideas, concepts and scientific observations in any area of recent endocrinology. Manuscripts may be submitted as Original Articles, Notes, Rapid Communications or Review Articles. We have a rapid reviewing and editorial decision system and pay a special attention to our quick, truly scientific and frequently-citable publication. Please go through the link for author guideline.
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