在乳头甲状腺癌中发现一种新的非V600E BRAF突变
Marco Capezzone1, Maja Rossi2, Elisabetta Macerola3
1UOSD of Endocrinology, Misericordia Hospital, Grosseto 58100, Italy.
Case reports in endocrinology
|March 27, 2024
概括
一种与常见的V600E不同的新型BRAF突变在乳头甲状腺癌中被识别出,该突变是在细针吸收细胞学样本上使用下一代测序. 这一发现强调了NGS.
科学领域:
- 在瘤学瘤学.
- 遗传学 遗传学 是一个
- 内分泌学 在内分泌学.
背景情况:
- 乳头甲状腺癌 (PTC) 是一种常见的内分泌恶性瘤,发病率正在上升.
- 在PTC中,BRAF突变,特别是V600E是常见的,但也有不常见的变体存在,临床影响不明.
研究的目的:
- 报告在患有可疑甲状腺结节的患者手术前发现的新型非V600E BRAF突变.
- 为了证明下一代测序 (NGS) 在细针吸收细胞学 (FNAC) 上用于检测罕见突变的实用性.
主要方法:
- 在FNAC材料上进行下一代测序 (NGS).
- 直接的桑格序列测序进行确认.
主要成果:
- 在手术前发现了一种新的BRAF突变 (c.1799_1812delinsAT,p.V600_W604delinsD).
- 这种非V600E变种在术后得到证实.
- 在细胞学样本上的NGS成功检测出了这种罕见的突变.
结论:
- 在乳头甲状腺癌中发现了一种新的非V600E BRAF变体.
- 应用于细胞学样本的NGS增强了甲状腺癌罕见突变的诊断特异性.
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