Genomic instability markers show associations with malignant transformation in oral leukoplakias and proliferative verrucous leukaplakiasGenomic markers show links to cancer in oral leukoplakia

Frontiers in Medicine Published August 30, 2026 Study authors: Bernadette Quah, Yang Zhang, Rahul Harshad Nagadia, N. Gopalakrishna Iyer, Margaret Sällberg Chen, N… DOI ↗ Editorial oversight: Dr. Sofia Müller, MD · Lifespan & Whole-Person Care

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Key Takeaway

Note that while genomic markers associate with malignancy, no single marker currently provides sufficient predictive performance.

This systematic review synthesized findings from 34 observational studies involving 3,237 patients to evaluate the predictive performance of tissue-based genomic instability markers for malignant transformation in oral leukakias (OLs) and proliferative verrucous leukaplakias (PVLs). The review focused on DNA-level markers, such as aneuploidy, impaired DNA repair capacity, loss of heterozygosity, chromosomal instability, and copy number alterations, as well as gene-specific alterations including TP53, MKI67, and FGFR1.

Findings indicate that DNA-level and chromosomal markers for OL are associated with malignant transformation. However, results for gene-specific alterations like TP53, MKI67, and FGFR1 varied across the included studies. Notably, genomic markers for PVLs differed substantially from those in OLs, with fewer consistent predictors identified for PVL cases. The authors note that no single marker currently demonstrates sufficient predictive performance for clinical use.

Clinical utility is currently limited by the lack of a single reliable predictor and the inconsistent results for specific gene alterations. While genomic instability provides a promising biological framework for risk assessment, the authors emphasize that multi-marker panels and prospective studies are necessary before these markers can be implemented in clinical practice.

How this fits prior evidence

This systematic review addresses a gap in the understanding of molecular predictors for malignant transformation in oral leukakias. While prior coverage noted higher MDA in oral leukoplakia as an indicator of oxidative stress, this review focuses on genomic instability markers. It expands the available evidence by identifying specific DNA-level and gene-specific markers associated with malignancy, though it notes that these markers currently lack the consistency required for individual clinical use.

When a patient develops a white patch in their mouth, known as oral leukoplakia, the biggest concern is whether it will turn into cancer. Doctors are looking for ways to predict this change early. A review of 34 studies involving over 3,200 patients looked at genomic instability, which refers to errors at the DNA and chromosomal levels.

Researchers found that several DNA markers, such as aneuploidy and impaired DNA repair, were linked to the development of cancer in patients with oral leukoplakias. While some specific genes like TP53 and MKI67 also showed links, the results for these specific genes were not consistent across all studies.

It is important to note that these findings are based on observational data, meaning they show a link rather than a direct cause. Currently, no single marker is reliable enough to be used alone to predict cancer. More research is needed to create a reliable panel of markers for doctors to use in daily practice.

What this means for you:

Several DNA markers are linked to cancer in oral leukoplakias, but no single marker can predict it alone yet.

Common questions

What are the genomic markers for oral leukoplakias?

The study identified several DNA-level markers, including aneuploidy, impaired DNA repair capacity, loss of heterozygosity, chromosomal instability, and copy number alterations. These markers showed associations with malignant transformation in patients with oral leukoplakias.

Can a single test tell if a white patch in the mouth will become cancer?

No, the research shows that no single marker reliably demonstrates enough predictive performance to be used alone. Because findings for specific genes varied across studies, doctors need more research to develop a reliable multi-marker panel before it can be used in clinical practice.

How do results for proliferative verrucous leukoplakia differ?

The genomic markers for proliferative verrucous leukoplakias differed substantially from those found in oral leukoplakias. Specifically, the markers for proliferative verrucous leukoplakias were less consistent, and fewer predictors were found for that condition.

Study Details

Study typeMeta analysis

EvidenceLevel 1

PublishedAug 2026

View Original Abstract ↓

Although several biomarkers have been described for predicting malignant transformation in oral leukoplakias (OLs) and proliferative verrucous leukoplakias (PVLs), no systematic review has comprehensively evaluated tissue-based genomic instability markers. This review aimed to evaluate the evidence for these markers and their potential role in biomarker panel development. A systematic review across PubMed, Embase and Cochrane Library was performed to identify studies evaluating the differences in tissue-based genomic markers between OL and PVL patients with and without malignant transformation. 34 observational studies comprising 3,237 patients were included, and genomic aberrations were categorised into DNA-level, chromosomal, and gene-specific alterations. For studies on OLs, DNA-level and chromosomal markers for which individual studies reported associations with malignant transformation included aneuploidy, impaired DNA repair capacity, loss of heterozygosity, chromosomal instability, and copy number alterations. Multiple gene-specific alterations also showed associations (e.g., TP53, MKI67, FGFR1), but findings varied across studies. The genomic markers of PVLs differed substantially, with fewer consistent predictors found. No meta-analysis was performed as all included studies were observational. Genomic instability across multiple levels contributes to malignant transformation, and represents a promising biological framework for predicting malignant transformation for OLs. While no single marker reliably demonstrates sufficient predictive performance, the integration of complementary genomic alterations with clinical and histopathological risk factors may provide a basis for the development of robust multi-marker panels. Future prospective studies using standardised detection methods and multivariable prediction models are required before clinical implementation.

Genomic instability markers show associations with malignant transformation in oral leukoplakias and proliferative verrucous leukaplakiasGenomic markers show links to cancer in oral leukoplakia

How this fits prior evidence

Common questions

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Genomic instability markers show associations with malignant transformation in oral leukoplakias and proliferative verrucous leukaplakiasGenomic markers show links to cancer in oral leukoplakia

How this fits prior evidence

Common questions

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Study Details

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