Evaluating the diagnostic value and prospects of genomic and mutational sequencing in malignant transformation of oral leukoplakia

Genomic and mutational sequencing in malignant transformation of oral leukoplakia (OLK) has emergingly gained momentum. In this short communication, we identified 5 retrospective follow-up studies and 5 cross-section comparative studies on this issue using formalin-fixed paraffin-embedded tissues. Copy number alteration (CNA) was demonstrated to increase with the grade of oral dysplasia. CNA-based algorithms showed better prediction performances than histological grade in assessing the risk of OLK malignant transformation. Importantly, we conducted a pooled-analysis on the mutation frequencies of the common oral cancer driver genes extracted from individual studies. The most common mutation gene was found to be TP53 (26.26 %; 95 % confidence intervals (CI), 20.61–32.82 %), followed by NOTCH1 (23.23 %; 95%CI, 17.87–29.61 %), FAT1 (16.67 %; 95%CI, 12.08–22.52 %), and CDKN2A (10.61 %; 95%CI, 6.98–15.73 %). Collectively, it is promising to establish molecular subtyping and risk stratification of OLK patients using genomic and mutational sequencing. We recommend the well-designed studies with a larger OLK patient population with clinical endpoints using fresh or frozen tissues and matched optimal samples as controls in further investigations.