Genetic alteration of Exon 5 of the PTEN gene in Indian patients with ameloblastoma

Abstract

The PI3K/Akt/mTOR pathway is one of the signaling pathways associated with the pathogenesis of ameloblastoma. The phosphatase and tensin (PTEN) homologue controls cell migration and proliferation. It monitors the level of Akt and maintains cellular integrity. The aim of the present study was to study the genetic alteration of Exon 5 of the PTEN gene in Indian patients with ameloblastoma. Total DNA was extracted from formalin-fixed paraffin-embedded tissue samples from 20 cases with solid multicystic ameloblastoma (SMA) and from 10 cases with normal tooth germ. Exon 5 of the PTEN gene, was assessed for its role in the pathogenesis of ameloblastoma. Five of 20 cases of SMA showed genetic alteration. Of these cases 3 (15%) showed silent mutation, 1 (5%) showed change in amino acid sequence from valine to glutamic acid, and 1 (5%) showed nonsense-mediated mRNA decay. The present study showed 25% somatic mutational frequency in exonic region 5 of the PTEN gene. This may indicate its role in the pathogenesis of ameloblastoma.