Tumor Biology

, Volume 37, Issue 6, pp 7625–7632 | Cite as

PTEN and p16 genes as epigenetic biomarkers in oral squamous cell carcinoma (OSCC): a study on south Indian population

  • P. S. Sushma
  • Kaiser Jamil
  • P. Uday Kumar
  • U. Satyanarayana
  • M. Ramakrishna
  • B. Triveni
Original Article


Phosphatase and tensin homolog (PTEN) and p16INK4a (p16) genes are tumor suppressor genes, associated with epigenetic alterations. PTEN and p16 promoter hypermethylation is a major epigenetic silencing mechanism leading to cancer. The cooperation between PTEN and p16 in pathogenesis of cancers suggest that their combination might be considered as potential molecular marker for specific subgroups of patients. Hence, the present study aimed to investigate whether PTEN and p16 promoter methylations were involved in oral squamous cell carcinoma (OSCC) in south Indian subjects. DNA methylation quantitative analyses of the two candidate tumor suppressor genes PTEN and p16 were performed by methylation-specific polymerase chain reaction (MSP). Fifty OSCC biopsy samples and their corresponding non-malignant portions as controls were studied comparatively. The methylation status was correlated with the clinical manifestations. Twelve out of 50 patients (24 %) were found to be methylated for PTEN gene, whereas methylation of the p16 gene occurred in 19 out of 50 cases (38 %). A statistically significant result was obtained (P = <0.0001 and 0.017) for both PTEN and p16 genes. PTEN and p16 promoter methylation may be the main mechanism leading to the low expression of PTEN and p16 genes indicating the progress of tumor development. Our data suggest that a low PTEN and p16 expression due to methylation may contribute to the cancer progression and could be useful for prognosis of OSCC. Therefore, analysis of promoter methylation in such genes may provide a biomarker valuable for early detection of oral cancer.


Methylation-specific PCR (MSP) Oral squamous cell carcinoma (OSCC) Epigenetics PTEN p16 Biomarkers 



We are grateful to Dr. NTR University of Health Sciences for the Ph.D registration of first author Sushma P.S. We are also thankful to National Institute of Nutrition (ICMR) and Bhagwan Mahavir Medical Research Centre for the facilities provided. We extend our thanks to the study groups for their cooperation.

Compliance with ethical standards

All the patients were advised of the procedures and provided written informed consent. This study was approved by the MNJ cancer hospitals’ Ethics Committee.

Conflicts of interest


Funding sources



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Copyright information

© International Society of Oncology and BioMarkers (ISOBM) 2015

Authors and Affiliations

  • P. S. Sushma
    • 1
  • Kaiser Jamil
    • 2
  • P. Uday Kumar
    • 1
  • U. Satyanarayana
    • 3
  • M. Ramakrishna
    • 4
  • B. Triveni
    • 4
  1. 1.Department of PathologyNational Institute of Nutrition (ICMR)HyderabadIndia
  2. 2.Department of GeneticsBhagwan Mahavir Medical Research CentreHyderabadIndia
  3. 3.Department of BiochemistryDr. Pinnamaneni Siddhartha Institute of Medical SciencesGannavaramIndia
  4. 4.MNJ Institute of Oncology and Regional Cancer CentreHyderabadIndia

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