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TERT Promoter Mutations and Tert Expression in Early-Stage (T1N0M0) Non-Small Cell Lung Cancer (NSCLC) | OMICS International| Abstract
ISSN: 2161-0681

Journal of Clinical & Experimental Pathology
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  • Research Article   
  • J Clin Exp Pathol 2015, Vol 5(5): 248
  • DOI: 10.4172/2161-0681.1000248

TERT Promoter Mutations and Tert Expression in Early-Stage (T1N0M0) Non-Small Cell Lung Cancer (NSCLC)

Giordano M1, Macerola E1, Boldrini L1, Giannini R1, Servadio A1, Alì G2, Melfi F3, Lucchi M3, Bertoglio P1, Mussi A1,3 and Fontanini G1,4*
1Department of Surgical, Medical, Molecular Pathology and Critical Area, University of Pisa, Pisa, Italy
2Unit of Pathological Anatomy, Azienda Ospedaliero Universitaria Pisana, AOUP, Pisa, Italy
3Unit of Thoracic Surgery, Azienda Ospedaliero Universitaria Pisana, AOUP, Pisa, Italy
4Program of Pleuropulmonary pathology, Azienda Ospedaliero Universitaria Pisana, AOUP, Pisa, Italy
*Corresponding Author : Fontanini G, Department of Surgical, Medical, Molecular Pathology and Critical Area, University of Pisa, Pisa, Italy, Tel: 39050992983, Fax: 39050992011, Email: [email protected]

Received Date: Jul 30, 2015 / Accepted Date: Aug 27, 2015 / Published Date: Aug 30, 2015

Abstract

Background: The mutations detected in the promoter of the telomerase reverse transcriptase (TERT) gene,namely C228T and C250T, were first identified in melanoma and subsequently in several cancer models, notably glioma, thyroid cancer and bladder cancer. Recent findings demonstrate that mutation of the TERT promoter may be one of the most common genetic mechanisms contributing to telomerase activation in malignant cells. Mutation of the TERT promoter appears to be an indicator of worse outcome and is correlated with tumor aggressiveness and patient survival; however, to date the only two published studies reported a very low TERT mutation frequency in non-small cell lung cancer (NSCLC). Additionally, the relationship among the presence of these mutations, Tert expression and clinical outcome is unknown.

Materials and methods: In this study, the polymerase chain reaction and direct sequencing analysis of a TERT promoter region using formalin-fixed and paraffin-embedded tissues were performed to investigate the presence of TERT promoter mutations in a series of 95 early-stage (T1N0M0) NSCLC samples, including 48 adenocarcinomas (ADCs) and 47 squamous cell carcinomas (SCCs).Then, immunohistochemical (IHC) staining was performed to detect the expression of Tert.

Results and conclusions: We report that TERT promoter mutations are present in NSCLC with a frequency of 10.52%. TERT promoter mutations were identified in 7 (14.58%) ADCs and 3 (6.38%) SCCs. Tert was expressed in the cytoplasm of 55 samples out of 93 (59.1%) in 33 ADCs and 22 SCCs. The ADCs expressed Tert in a higher percentage of cases (71.7% vs. 46.8%). Although no correlations between the TERT mutations, Tert immunohistochemical expression, clinico-pathological parameters and survival were found in our series, this study represents a starting point for further research to better understand the molecular mechanisms involved in the transcriptional regulation of TERT and its role in lung cancer progression.

Keywords: TERT promoter mutations; Telomerase; Non-small cell lung cancer

Citation: Giordano M, Macerola E, Boldrini L, Giannini R, Servadio A, et al. (2015) TERT Promoter Mutations and Tert Expression in Early-Stage (T1N0M0) Non-Small Cell Lung Cancer (NSCLC). J Clin Exp Pathol 5:248. Doi: 10.4172/2161-0681.1000248

Copyright: © 2015, Giordano M, This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

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