Genetic alteration of Exon 5 of PTEN gene in Indian subjects with ameloblastoma

Publication date: Available online 3 December 2018

Source: Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology

Author(s): Dr. Bhaskar Narayan, Dr. Aadithya B. Urs, Dr. Jeyaseelan Augustine, Dr. Hanspal Singh, Dr. Sunil Kumar Polipalli, Mr. Somesh Kumar, Dr. Seema Kapoor

Abstract

Background

PI3K/Akt/mTOR pathway is one of the signalling pathways that are associated with the pathogenesis of ameloblastoma. Phosphatase and tensin homolog (PTEN) controls cell migration and proliferation. It monitors the level of the Akt and maintains cellular integrity. The present study was aimed to study the genetic alteration of Exon 5 of PTEN gene in Indian subjects with ameloblastoma.

Methods

Total DNA was extracted from twenty cases of formalin fixed paraffin embedded tissue samples of solid multicystic ameloblastoma (SMA) and 10 cases of normal tooth germ. Exon 5 of the PTEN gene which accounts for most genetic alteration in many tumors was assessed for its role in the pathogenesis of ameloblastoma.

Results

Five out of twenty cases of SMA showed genetic alteration. Three of these cases (15%) showed silent mutation, one case (5%) showed change in amino acid sequence from valine to glutamic acid and one case (5%) showed nonsense mediated mRNA decay.

Conclusion

The present study showed 25% somatic mutational frequency in the 5^th exonic region of the PTEN gene. This may indicate its role in the pathogenesis of ameloblastoma.

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