Analysis of tumor protein p53 (p53) mutations in eyelid malignancy

Abstract

The tumor protein p53 (or p53) gene plays a major role in the maintenance of normal cell growth and differentiation. Alteration in p53 gene is responsible for carcinogenesis. In this study, we evaluated the frequency of p53 mutation and clinicopathological findings in various eyelid malignancies. We reviewed a cohort of 20 patients with various eyelid malignancies over one year. The expression of p53protein was analyzed by amplifying the exons 5-9 of p53 gene by conventional Polymerase Chain Reaction (PCR) followed by sequencing to identify mutations. The commonest eyelid malignancies was sebaceous gland carcinoma (SGC;50%) followed by basal cell carcinoma (BCC;45%) and squamous cell carcinoma(SCC; 5%). Study population/patients were mostly elderly (60 %, > 50 years of age) and female (75%). A total of 14 mutations were identified in the p53 genes in 9/20 (45%) patients at different intron or exon. Amongst them 6 patients (66.7%) had SGC and 3 (33.3%) had BCC. Out of the total 14 mutations identified, 8 intronic variation and 6 exonic mutations were identified. Out of 6 exonic variations, 5 caused frame shift mutations due to insertion or deletion of bases and one case was of substitution mutation (D281Y).Sebaceous gland carcinoma (SGC) was found to be most prevalent eyelid cancer in the present study and it most frequent displayed mutation inthe p53 genes among the all eyelid tumors investigated.