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日本晚期甲状腺癌突变的频率:一个单中心研究
Soji Toda1, Hiroyuki Iwasaki1, Yoichiro Okubo2
1Department of Endocrine Surgery, Kanagawa Cancer Center, Kanagawa 241-8515, Japan.
Endocrine journal
|December 3, 2023
概括
遗传检测显示,在日本的晚期甲状腺癌中,经常出现可操作的突变. 基因组测试对于确定针对性治疗选择在形性,乳头性和差分化甲状腺癌中至关重要.
科学领域:
- 在瘤学瘤学.
- 遗传学 是一个遗传学.
- 分子生物学分子生物学
背景情况:
- 晚期甲状腺癌带来了重大的治疗挑战.
- 识别特定的遗传变异是瘤学个性化医学的关键.
- 之前的研究还没有完全描述日本晚期甲状腺癌患者的突变场景.
研究的目的:
- 在日本队列中研究晚期甲状腺癌中遗传突变的频率和谱.
- 为了确定可操作突变的患病率,可以指导向治疗的选择.
- 为了比较不同类型的晚期甲状腺癌的突变特征.
主要方法:
- 对96名无法切除或转移的甲状腺癌患者的回顾性图表审查.
- 对2020年5月至2023年4月期间进行的基因组测试结果的分析.
- 甲状腺癌亚型的分类,包括形癌 (ATC),乳头癌 (PTC),毛囊癌和差异化癌 (PDTC).
主要成果:
- 可采取行动的突变的高患病率:58.8%在ATC中,93.8%在PTC中,42.9%在PDTC中.
- 在ATC (52.9%) 和PTC (83.1%) 中,BRAF突变很常见.
- 与其他亚型 (11.8%) 相比,ATC (82.3%) 的TP53变化明显更频繁.
结论:
- 在日本,很大一部分晚期甲状腺癌患者具有基因变异,可以接受向治疗.
- 基因组测试对于全面的分子分析至关重要,以优化治疗策略.
- 这些发现强调了需要进行常规分子测试,以扩大晚期甲状腺癌患者的治疗选择.
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