This study was conducted to understand the genomics of progression of oral precancerous lesion (leukoplakia) to malignant oral tumor.

A small fraction of oral precancerous lesions (leukoplakia) progresses to malignant tumors of the gingivobuccal region in the oral cavity. This study was undertaken to understand the genomics of progression of gingivobuccal oral cancer from precancerous lesion (leukoplakia). Tissue samples from leukoplakia, oral tumor, adjacent normal and blood were collected from gingivo-buccal oral cancer patients for whom there was concomitant presence of precancerous and cancerous lesions. Genomic DNA was extracted and sequenced for the whole exome (~100X) from leukoplakia, oral tumor and blood tissue. Whole transcriptome data were also generated on leukoplakia, tumor and adjacent normal tissues from the same set of patients. The study was able to identify – (i) signature driver gene profiles related to leukoplakia and tumor development, (ii.a) genome-scale genomic aberrations and (ii.b) deregulated gene expression profiles in precancerous lesion and tumor.