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良性混合性和恶性牙源性肿瘤中 BRAF p.V600E 的流行率及检测方法:系统评价。

Prevalence of BRAF p.V600E and Detection Methods in Benign Mixed and Malignant Odontogenic Tumors: A Systematic Review.

机构信息

Department of Oral and Maxillofacial Pathology, School of Dentistry, University of Pernambuco (UPE), Recife, Brazil.

Integrated Anatomic Pathology Center-Hospital Universitário Oswaldo Cruz, Rua Arnóbio Marquês, 310-Santo Amaro, Recife, PE, 50100-130, Brazil.

出版信息

Head Neck Pathol. 2023 Dec;17(4):1000-1010. doi: 10.1007/s12105-023-01601-6. Epub 2023 Dec 6.

Abstract

BACKGROUND

The BRAF p.V600E genetic variant facilitates the pathogenesis of various tumors by triggering tumor proliferation and progression. The aim of this study was to analyze the prevalence of BRAF p.V600E in benign mixed epithelial and mesenchymal and malignant odontogenic tumors. In addition, we discussed the different detection methods used to assess for aberrant BRAF.

METHODS

This systematic review followed the PRISMA guidelines and was registered in Prospero (CRD42023445689). A comprehensive search of the PubMed/MEDLINE, Scopus, Web of Science, and Embase electronic databases was performed to answer the question "What is the prevalence of the BRAF p.V600E mutation in benign mixed and malignant odontogenic tumors?" The methodological quality of the selected studies was assessed using the JBI's Critical Appraisal Tool.

RESULTS

Initially, 387 records were identified, but only 11 articles met the inclusion criteria. A total of 70 patients with benign mixed epithelial and mesenchymal odontogenic tumors and 63 with malignant odontogenic tumors were included in the analysis. We found that the BRAF p.V600E mutation had a prevalence of 31.42% in mixed tumors and 26.98% in malignant odontogenic tumors. Moreover, immunohistochemistry showed high concordance with DNA-based molecular methods.

CONCLUSION

In general, the BRAF p.V600E variant exhibited a prominent prevalence in mixed and malignant odontogenic tumors. However, most of the findings are based on small cohorts of patients and further studies with larger cohorts are needed.

摘要

背景

BRAF p.V600E 基因突变通过触发肿瘤增殖和进展,促进多种肿瘤的发病机制。本研究旨在分析良性混合上皮和间充质及恶性牙源性肿瘤中 BRAF p.V600E 的流行率。此外,我们还讨论了用于评估异常 BRAF 的不同检测方法。

方法

本系统评价遵循 PRISMA 指南,并在 Prospero(CRD42023445689)中进行了注册。对 PubMed/MEDLINE、Scopus、Web of Science 和 Embase 电子数据库进行了全面检索,以回答“良性混合性和恶性牙源性肿瘤中 BRAF p.V600E 突变的流行率是多少?”使用 JBI 的批判性评估工具评估所选研究的方法学质量。

结果

最初确定了 387 条记录,但只有 11 篇文章符合纳入标准。共有 70 名患有良性混合上皮和间充质牙源性肿瘤和 63 名患有恶性牙源性肿瘤的患者被纳入分析。我们发现,BRAF p.V600E 突变在混合肿瘤中的流行率为 31.42%,在恶性牙源性肿瘤中的流行率为 26.98%。此外,免疫组织化学与基于 DNA 的分子方法具有高度一致性。

结论

总体而言,BRAF p.V600E 变体在混合性和恶性牙源性肿瘤中表现出显著的流行率。然而,大多数发现基于小队列的患者,需要进一步进行更大队列的研究。

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