Abstract
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.