Genetic association of oral submucous fibrosis with oral squamous cell carcinoma

Background: Oral submucous fibrosis (OSF) is a chronic, progressive, premalignant condition. It has high rate of morbidity due to progressive inability to open mouth due to juxtaepithelial inflammatory reaction and progressive fibrosis of lamina propria. The chewing habit of paan, chaliya, gutka, naswar, mava and manpuri are the potential risk of OSF in the developing countries like Pakistan. It has been observed that significant mortality rate of OSF can transform into oral squamous cell carcinoma (OSCC). It has been reported that TP53 mutation at DNA binding domain was found in OSCC patients of Pakistan. The aim of the study is to find out the loss of TP53 functions in OSF patients and association between OSF and OSCC patients. Methods: Blood and tissue samples 250 OSF patients will be collected. The samples will be compared with age- and sex-matched controls. Mutations in exons of TP53 genes will be examine by polymerase chain reaction and direct DNA sequencing. Results: Missense mutation was found at exon 4 and 7 at TP53 gene. Genetic aberration is expected in OSF patients which will be compared with the results OSCC patients. Conclusion: Germ line mutation(s) of TP53 pathways are involved in different steps of tumourigenesis and increasing the susceptibility of OSF in Pakistan. These finding will help in accurate and early diagnosis, better prognosis, which will be helpful in saving the patients from painful and mutilating ablative surgery of the patients.