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

**Authors:** 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

PMC · DOI: 10.1111/odi.70020 · Oral Diseases · 2025-07-04

## TL;DR

This study compared genetic mutations in two forms of oral lichen planus and found no significant difference in mutation levels between them.

## Contribution

The study provides new insights into the genetic similarities between erosive and reticular oral lichen planus.

## Key findings

- No significant difference in tumour mutational burden was found between erosive and reticular OLP.
- Most samples had low or zero tumour mutational burden.
- Genes related to immune response and tumour suppression were affected by somatic variations.

## Abstract

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.

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.

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).

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

## Linked entities

- **Genes:** PTPRD (protein tyrosine phosphatase receptor type D) [NCBI Gene 5789], PSMA6 (proteasome 20S subunit alpha 6) [NCBI Gene 5687], CD274 (CD274 molecule) [NCBI Gene 29126], PALB2 (partner and localizer of BRCA2) [NCBI Gene 79728], ATRX (ATRX chromatin remodeler) [NCBI Gene 546], BRCA2 (BRCA2 DNA repair associated) [NCBI Gene 675]
- **Diseases:** oral lichen planus (MONDO:0043923), tumour (MONDO:0005070)

## Full-text entities

- **Genes:** PSMA6 (proteasome 20S subunit alpha 6) [NCBI Gene 5687] {aka IOTA, PROS27, p27K}, PALB2 (partner and localizer of BRCA2) [NCBI Gene 79728] {aka BROVCA5, FANCN, PNCA3}, PTPRD (protein tyrosine phosphatase receptor type D) [NCBI Gene 5789] {aka HPTP, HPTPD, HPTPDELTA, PTPD, R-PTP-delta, RPTPDELTA}, BRCA2 (BRCA2 DNA repair associated) [NCBI Gene 675] {aka BRCC2, BROVCA2, FACD, FAD, FAD1, FANCD}, ATRX (ATRX chromatin remodeler) [NCBI Gene 546] {aka JMS, MRX52, RAD54, RAD54L, XH2, XNP}, CD274 (CD274 molecule) [NCBI Gene 29126] {aka ADMIO5, B7-H, B7H1, PD-L1, PDCD1L1, PDCD1LG1}
- **Diseases:** inflammatory disease (MESH:D007249), Erosive (MESH:D014077), OLP (MESH:D017676), Tumour (MESH:D009369)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Full text

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## References

26 references — full list in the complete paper: https://tomesphere.com/paper/PMC12989049/full.md

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Source: https://tomesphere.com/paper/PMC12989049