Comparative Analysis of the Tumour Mutational Burden in Erosive and Reticular Oral Lichen Planus.

IF 2.9 3区医学 Q1 DENTISTRY, ORAL SURGERY & MEDICINE

Oral diseases Pub Date : 2025-07-04 DOI:10.1111/odi.70020

Priscila Laiza Rubim Leão, Rennan Garcias Moreira, Fernanda Faria Rocha, Laura de Freitas Xavier, Larissa Rany Martins-Chaves, Ana Carolina Carneiro Batista de Oliveira, Soraya de Mattos Camargo Grossmann Almeida, Silvia Ferreira de Sousa, Marina Gonçalvez Diniz, Roberta Rayra Martins-Chaves, Ricardo Santiago Gomez

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引用次数: 0

Abstract

Objective: Oral lichen planus (OLP) is a chronic inflammatory disease classified as an oral potentially malignant lesion. The erosive and reticular forms of OLP have the potential for malignant transformation, with no consistent data indicating that one form is more likely to undergo malignant transformation than the other. Tumour mutational burden (TMB) is a parameter that represents the number of somatic mutations in the DNA of neoplastic cells. This study aimed to compare TMB levels in the two primary clinical forms of OLP, the erosive and reticular sub-types.

Methods: Next-generation sequencing of samples from 18 patients with OLP, including nine of each clinical form, was performed using the QIAseq Targeted DNA Human TMB Panel.

Results: Eight (44.4%) of the samples had a TMB ≤ 10 mutations/Mb, while 10 (55.6%) had a TMB of zero. No significant difference was observed between the erosive and reticular forms of OLP. A maximum of two somatic variations per sample was identified, involving genes associated with immune response (PTPRD, PSMA6 and CD274) and tumour suppression (PALB2, ATRX and BRCA2).

Conclusion: Although these data suggest that genetic mutational events occur similarly in erosive and reticular OLP, further molecular studies are required to confirm the findings.

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糜烂性与网状口腔扁平苔藓肿瘤突变负荷的比较分析。

目的：口腔扁平苔藓（OLP）是一种慢性炎症性疾病，属于口腔潜在的恶性病变。侵蚀性和网状形态的OLP具有恶性转化的潜力，没有一致的数据表明一种形式比另一种形式更容易发生恶性转化。肿瘤突变负荷（tumor mutational burden， TMB）是表征肿瘤细胞DNA中体细胞突变数量的参数。本研究旨在比较两种主要临床形式OLP的TMB水平，糜烂型和网状型。方法：使用QIAseq Targeted DNA Human TMB Panel对18例OLP患者（每种临床形式9例）的样本进行新一代测序。结果：TMB≤10个突变/Mb的有8例（44.4%），TMB为0的有10例（55.6%）。糜烂性和网状形态的OLP无显著差异。每个样本最多鉴定出两个体细胞变异，涉及与免疫应答（PTPRD， PSMA6和CD274）和肿瘤抑制（PALB2， ATRX和BRCA2）相关的基因。结论：虽然这些数据表明，基因突变事件在侵蚀性和网状OLP中发生相似，但需要进一步的分子研究来证实这一发现。

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 diseases 医学-牙科与口腔外科

CiteScore

7.60

自引率

5.30%

发文量

325

审稿时长

4-8 weeks

期刊介绍： Oral Diseases is a multidisciplinary and international journal with a focus on head and neck disorders, edited by leaders in the field, Professor Giovanni Lodi (Editor-in-Chief, Milan, Italy), Professor Stefano Petti (Deputy Editor, Rome, Italy) and Associate Professor Gulshan Sunavala-Dossabhoy (Deputy Editor, Shreveport, LA, USA). The journal is pre-eminent in oral medicine. Oral Diseases specifically strives to link often-isolated areas of dentistry and medicine through broad-based scholarship that includes well-designed and controlled clinical research, analytical epidemiology, and the translation of basic science in pre-clinical studies. The journal typically publishes articles relevant to many related medical specialties including especially dermatology, gastroenterology, hematology, immunology, infectious diseases, neuropsychiatry, oncology and otolaryngology. The essential requirement is that all submitted research is hypothesis-driven, with significant positive and negative results both welcomed. Equal publication emphasis is placed on etiology, pathogenesis, diagnosis, prevention and treatment.