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基于位置的BRAF V600E突变状态与散发性甲状腺结节的大小模式:一项基于人群的研究。

Location based BRAF V600E mutation status and dimension patterns of sporadic thyroid nodules: a population-based study.

作者信息

Tang Hui, Guo Dan, Yang Bin, Huang Shu-Hua

机构信息

Department of Pathology, The First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, 310003, China.

Northern Jiangsu People's Hospital Affiliated to Yangzhou University, Yangzhou, 225000, China.

出版信息

BMC Cancer. 2025 Mar 6;25(1):406. doi: 10.1186/s12885-025-13776-y.

DOI:10.1186/s12885-025-13776-y
PMID:40050757
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11884127/
Abstract

Fine-Needle Aspiration (FNA) has been routinely used for papillary thyroid carcinoma (PTC) diagnosis. One single liquid based tissue sample collected from FNA can be used for both cytological diagnosis and genetic testing at the same time. BRAF V600E mutation exhibits 100% specificity and high sensitivity for papillary thyroid carcinoma (PTC). However, FNA based studies on the genotypic (BRAF V600E) and ultrasonic (US) imaging characteristics (location and diameter) are exceedingly rare. Here, we aimed to study the genotypic (BRAF V600E) and US imaging characteristics (location and diameter) in a large retrospective cohort. A total of 4808 patients with thyroid nodules from a tertiary center underwent FNA, and 2430 patients underwent molecular testing. Our data demonstrated that the thyroid nodules were predominantly located on the right side (p = 0.0004). Patients diagnosed with Bethesda VI cytology had significantly more right-sided thyroid nodules (p = 0.0041). Interestingly, among patients with PTC with lymph node metastasis (LNM), right-side-affected LNM was significantly more common than left-side-affected LNM, which implies a biased regional LNM of right-side-located thyroid nodules (p = 0.0007). The size of BRAF-V600E mutated or right-lobe located nodules was significantly larger than that in the control group (p = 0.0156), and patients with a BRAF V600E mutation were considerably younger than those with wild-type BRAF.

摘要

细针穿刺抽吸活检(FNA)一直被常规用于甲状腺乳头状癌(PTC)的诊断。从FNA采集的单个液基组织样本可同时用于细胞学诊断和基因检测。BRAF V600E突变对甲状腺乳头状癌(PTC)具有100%的特异性和高敏感性。然而,基于FNA对基因型(BRAF V600E)和超声(US)成像特征(位置和直径)的研究极其罕见。在此,我们旨在对一个大型回顾性队列中的基因型(BRAF V600E)和US成像特征(位置和直径)进行研究。共有来自一家三级中心的4808例甲状腺结节患者接受了FNA,其中2430例患者进行了分子检测。我们的数据表明,甲状腺结节主要位于右侧(p = 0.0004)。诊断为贝塞斯达VI级细胞学的患者右侧甲状腺结节明显更多(p = 0.0041)。有趣的是,在伴有淋巴结转移(LNM)的PTC患者中,右侧受累的LNM明显比左侧受累的LNM更常见,这意味着右侧甲状腺结节存在偏向性的区域LNM(p = 0.0007)。BRAF-V600E突变或位于右叶的结节大小明显大于对照组(p = 0.0156),且BRAF V600E突变的患者比野生型BRAF患者年轻得多。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cd1a/11884127/e1eff85acc3d/12885_2025_13776_Fig6_HTML.jpg
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https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cd1a/11884127/e1eff85acc3d/12885_2025_13776_Fig6_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cd1a/11884127/de39421093bb/12885_2025_13776_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cd1a/11884127/c17e9a3ba139/12885_2025_13776_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cd1a/11884127/3331d0d9ce57/12885_2025_13776_Fig3_HTML.jpg
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https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cd1a/11884127/e1eff85acc3d/12885_2025_13776_Fig6_HTML.jpg

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