Clinical Significance of Pathogenicity of Somatic Mutations in Oral Leukoplakia: a Prospective Observational Study

Background. The vast majority of malignant neoplasms the oral mucosa refer to squamous cell carcinomas. development carcinoma is often promoted by previous potentially diseases, with leukoplakia dominating among them. Objective. To determine clinical significance pathogenicity somatic mutations in mucosal leukoplakia. Methods. study material included 24 samples abnormal epithelium from patients. QIAamp DNA FFPE Tissue Kit (Qiagen, Germany) was used for deoxyribonucleic acid (DNA) extraction samples. sequencing performed using IlluminaNextSeq 550 sequencer and TruSight™ Oncology 500 For Use NextSeq (Illumina, USA). All extractions biological samples, preparation libraries were step-by-step strict accordance guidelines provided respective reagent kits. Bioinformatics analysis carried out specific software Illumina Base Space USA) Galaxy Project (The Community, a non-profit international project) according current guidelines. desired power accounted 90%. Two Proportions Z test means Sample Size Calculation Statistica 12 (StatSoft, Inc.) set option “one-tailed hypothesis”, because it initially assumed that pathogenic (oncogenic) genetic variants occur tissue much more frequently than human reference genome sequence alignment. Results. TP53 , KRAS APC NRAs BRAF genes, identified this study, alone or combination, are highly likely (hazard ratio 3000-11000) be associated low-grade epithelial dysplasia. multiplicity dysplasia, as well fact number do not all patients, suggests same histotype dysplasia may develop under influence different mutations. Conclusion. TP53, KRAS, APC, NRAS 3000–11000)