甲状腺肿瘤中 BRAF K601E 突变的患病率和预后意义:系统综述与元分析》。

IF 2.3 3区 医学 Q1 OTORHINOLARYNGOLOGY
Alyssa Webster, Rami M. Elshazli, Dylan Pinion, Robert D. E. Clark, Grace Kelly, Peter P. Issa, Mohammad H. Hussein, Manal S. Fawzy, Eman A. Toraih, Emad Kandil
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引用次数: 0

摘要

背景:45%的甲状腺乳头状癌(PTC)会出现BRAF癌基因的激活突变。尽管研究较少,但K601E可能会确定临床上不同的甲状腺肿瘤亚群:方法:利用 COSMIC 数据库和硅学数据分析进行了生物信息学评估。方法:利用 COSMIC 数据库进行生物信息学评估,并进行硅学数据分析,在 2024 年 8 月之前进行系统检索,以确定报告甲状腺肿瘤中 BRAF 突变的研究。从32项研究(13 191名患者)中提取/分析了汇总患病率、组织病理学亚型分布、甲状腺外扩展、淋巴结转移、复发和存活率:结果:在COSMIC数据库中,BRAF K601E可见于多种组织类型,但主要在甲状腺。硅学数据分析揭示了 K601E 和 V600E 之间差异的结构和功能基础。经系统回顾,在2.8%的PTC中发现了BRAF K601E突变,而在22%的PTC中发现了V600E突变。分层分析显示了地域差异,意大利(5.23%)和美国(3.31%)的比例较高。K601E突变体在NIFTP(11.2%的病例)等滤泡型变异中较为常见。Meta分析表明,K601E突变型与V600E突变型相比,甲状腺外扩展率明显降低(RR = 0.22,95% CI = 0.10-0.50,P = 0.0003):K601E突变肿瘤可能是一种独特的临床病理实体,与低风险组织学和甲状腺外扩展减少有关,与V600E突变体相比,其病程更为缓和。虽然检测K601E可能会指导保守治疗,但仍需进一步的前瞻性研究。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

The Prevalence and Prognostic Implications of BRAF K601E Mutations in Thyroid Neoplasms: A Systematic Review and Meta-Analysis

The Prevalence and Prognostic Implications of BRAF K601E Mutations in Thyroid Neoplasms: A Systematic Review and Meta-Analysis

Background

Activating mutations in the BRAF oncogene occur in 45% of papillary thyroid carcinomas (PTCs). Though less studied, K601E may identify a clinically distinct subset of thyroid neoplasms.

Methods

A bioinformatics assessment was conducted using the COSMIC database and in silico data analysis. A systematic search was conducted through August 2024 to identify studies reporting BRAF mutation in thyroid neoplasms. Pooled prevalence, histopathological subtype distribution, extrathyroidal extension, lymph node metastasis, recurrence, and survival were extracted/analyzed from 32 studies (13 191 patients).

Results

In the COSMIC database, BRAF K601E was found in various tissue types but mainly in the thyroid. In silico data analysis revealed a structural and functional basis for differences between K601E and V600E. Upon systematic review, the BRAF K601E mutation was identified in 2.8% of PTCs compared to 22% with V600E. The stratified analysis revealed geographical differences, with higher rates in Italy (5.23%) and the United States of America (3.31%). The K601E mutant was enriched for follicular-patterned variants like NIFTP (11.2% of cases). Meta-analysis demonstrated significantly reduced extrathyroidal extension for K601E versus V600E mutants (RR = 0.22, 95% CI = 0.10–0.50, p = 0.0003).

Conclusion

K601E-mutated neoplasms could be a unique clinicopathological entity associated with low-risk histology and reduced extrathyroidal extension, consistent with a more indolent course than V600E mutants. Although detecting K601E may potentially guide conservative management, further prospective studies are needed.

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来源期刊
CiteScore
7.00
自引率
6.90%
发文量
278
审稿时长
1.6 months
期刊介绍: Head & Neck is an international multidisciplinary publication of original contributions concerning the diagnosis and management of diseases of the head and neck. This area involves the overlapping interests and expertise of several surgical and medical specialties, including general surgery, neurosurgery, otolaryngology, plastic surgery, oral surgery, dermatology, ophthalmology, pathology, radiotherapy, medical oncology, and the corresponding basic sciences.
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