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.
摘要：
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。纳入了不可切除或转移性甲状腺癌的患者（n=96）进行回顾性图表回顾。基因组检测结果,在2020年5月至2023年4月期间进行了分析。患者的中位年龄为73.5岁（范围，17-88）;59是女性，39人是男人。总的来说,17例患者患有甲状腺未分化癌（ATC），68例甲状腺乳头状癌（PTC），7人患有滤泡性甲状腺癌，6例甲状腺低分化癌（PDTC）。81例分化型甲状腺癌(DTC)和PDTC,88.9%为耐放射性碘,所有病例中有32.7%以前曾接受过多种激酶抑制剂治疗.在空管案件中，52.9%有BRAF突变,5.9%有RET融合。在PTC案例中，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TP53改变的患病率明显高于其他病例(82.3%vs.11.8%），而TERT启动子突变的频率在ATC病例中为88.2%，在其他病例中为64.7%，虽然没有显著差异。总之,58.8%的ATC，PTC的93.8%，42.9%的PDTC有与治疗药物相关的遗传改变。需要进行主动基因组测试以增加治疗选择。
