Differences in BRAF V600E mutation between the epithelium and mesenchyme in classic ameloblastoma

IF 2 3区医学 Q2 DENTISTRY, ORAL SURGERY & MEDICINE

Oral Surgery Oral Medicine Oral Pathology Oral Radiology Pub Date : 2024-08-21 DOI:10.1016/j.oooo.2024.08.001

Zhuoxuan Chen MD , Yingying Hong PhD , Zhenni Zhao MD , Ningxiang Wu MD , Xiaokun Ma MD , Linlin Chen PhD , Ran Zhang PhD

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引用次数: 0

Abstract

Objective

Laser capture microdissection (LCM) was used to pinpoint the mutated tissue in ameloblastoma and investigate whether B-Raf proto-oncogene, serine/threonine kinase (BRAF) mutation is the main pathogenic gene in classic ameloblastoma.

Study Design

A total of 24 patients with ameloblastoma scheduled to undergo surgery between 2000 and 2024 were included in the study. LCM was used to isolate tumor cells. Oxford nanopore technology (ONT) was used to analyze the collected cells. GO and KEGG enrichment analyses were then performed on the 300 most highly expressed genes in the epithelial tissue and mesenchyme.

Results

Mandibular follicular ameloblastoma showed BRAF V600E mutations in all epithelial cells but not in the mesenchyme. The mutation rate was significantly higher in mandibular ameloblastomas compared to the maxilla (P < .05). RNA-seq showed that traditional follicular ameloblastoma epithelium was enriched in “growth factor receptor binding” and “angiogenesis regulation,” while the mesenchyme was enriched in “ECM receptor interaction.” KEGG enrichment analysis showed differential gene expression, mainly in MAPK and PI3K-AKT pathways.

Conclusion

Classical follicular ameloblastoma shows the presence of BRAF V600E mutation in epithelial tissue, with a higher mutation rate in the mandible than in the maxilla. The signaling pathways of MAPK and PI3K may be significantly involved in epithelial signal transduction.

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典型骨髓母细胞瘤上皮细胞和间充质的 BRAF V600E 突变差异

研究人员利用激光捕获显微切割技术（LCM）精确定位母细胞瘤中的突变组织，并研究B-Raf原癌基因（丝氨酸/苏氨酸激酶）突变是否是典型母细胞瘤的主要致病基因。研究共纳入了 24 名计划在 2000 年至 2024 年期间接受手术的牙釉质母细胞瘤患者。采用 LCM 分离肿瘤细胞。牛津纳米孔技术（ONT）用于分析收集到的细胞。然后对上皮组织和间质中表达量最高的 300 个基因进行 GO 和 KEGG 富集分析。下颌滤泡性母细胞瘤的所有上皮细胞都出现了V600E突变，但间质中没有。与上颌骨相比，下颌毛囊性母细胞瘤的突变率明显更高（< .05）。RNA-seq显示，传统的滤泡性母细胞瘤上皮细胞富集于 "生长因子受体结合 "和 "血管生成调节"，而间质细胞富集于 "ECM受体相互作用"。KEGG富集分析表明基因表达存在差异，主要集中在MAPK和PI3K-AKT通路。典型的滤泡性母细胞瘤显示上皮组织存在V600E突变，下颌骨的突变率高于上颌骨。MAPK和PI3K的信号通路可能在上皮信号转导中起重要作用。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Oral Surgery Oral Medicine Oral Pathology Oral Radiology DENTISTRY, ORAL SURGERY & MEDICINE-

CiteScore

3.80

自引率

6.90%

发文量

1217

审稿时长

2-4 weeks

期刊介绍： Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology is required reading for anyone in the fields of oral surgery, oral medicine, oral pathology, oral radiology or advanced general practice dentistry. It is the only major dental journal that provides a practical and complete overview of the medical and surgical techniques of dental practice in four areas. Topics covered include such current issues as dental implants, treatment of HIV-infected patients, and evaluation and treatment of TMJ disorders. The official publication for nine societies, the Journal is recommended for initial purchase in the Brandon Hill study, Selected List of Books and Journals for the Small Medical Library.