Telomerase promoter mutations in human immunodeficiency virus-related conjunctiva neoplasia
Abstract Background Squamous cell carcinoma (SCC) of the conjunctiva is a common cancer in Africa mainly associated with solar ultraviolet (UV) exposure and human immunodeficiency virus (HIV) infection. We analyzed the role of HIV on the occurrence of telomerase reverse transcriptase (TERT) promoter...
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doaj-b7bf940c142c47078fa6fddb12e1e45c2020-11-25T00:36:28ZengBMCJournal of Translational Medicine1479-58762018-03-011611710.1186/s12967-018-1456-0Telomerase promoter mutations in human immunodeficiency virus-related conjunctiva neoplasiaNoemy Starita0Luigi Buonaguro1Franco M. Buonaguro2Maria Lina Tornesello3Molecular Biology and Viral Oncology Unit, Istituto Nazionale Tumori IRCCS “Fondazione G. Pascale”Molecular Biology and Viral Oncology Unit, Istituto Nazionale Tumori IRCCS “Fondazione G. Pascale”Molecular Biology and Viral Oncology Unit, Istituto Nazionale Tumori IRCCS “Fondazione G. Pascale”Molecular Biology and Viral Oncology Unit, Istituto Nazionale Tumori IRCCS “Fondazione G. Pascale”Abstract Background Squamous cell carcinoma (SCC) of the conjunctiva is a common cancer in Africa mainly associated with solar ultraviolet (UV) exposure and human immunodeficiency virus (HIV) infection. We analyzed the role of HIV on the occurrence of telomerase reverse transcriptase (TERT) promoter mutations among a cohort of conjunctiva neoplasia Ugandan patients. Methods Telomerase reverse transcriptase promoter mutations were searched in 72 conjunctiva neoplasia cases, comprising SCC and intraepithelial neoplasia grade 1–3 (CIN1–3), as well as in 53 conjunctiva normal tissues and in 24 HIV-related Kaposi sarcoma. Results The average prevalence of TERT promoter mutations in conjunctiva neoplasia was 31.9%. The mutation rates were significantly higher in HIV-positive (31.8% of CIN1 and CIN2, 46.2% of CIN3 and SCC,) than HIV-negative patients (22.2% of CIN1 and CIN2, 13.3% of CIN3 and SCC). Such mutations were rarely identified among HIV-positive conjunctiva controls (3.6%) and never in Kaposi sarcoma lesions. The most frequent variations were the hot spots − 124G>A and − 146G>A and tandem transitions − 124_125GG>AA and − 138_139GG>AA. Conclusions Telomerase reverse transcriptase promoter mutations are early events in conjunctival neoplasia and could be used for timely diagnosis of conjunctiva tumours. The high frequency of UV-signatures in HIV-positive conjunctiva lesions suggests an additive effect of the virus to UV-related mutagenesis.http://link.springer.com/article/10.1186/s12967-018-1456-0TERT promoterMutationsConjunctiva neoplasiaKaposi sarcomaHIVAfrica |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Noemy Starita Luigi Buonaguro Franco M. Buonaguro Maria Lina Tornesello |
spellingShingle |
Noemy Starita Luigi Buonaguro Franco M. Buonaguro Maria Lina Tornesello Telomerase promoter mutations in human immunodeficiency virus-related conjunctiva neoplasia Journal of Translational Medicine TERT promoter Mutations Conjunctiva neoplasia Kaposi sarcoma HIV Africa |
author_facet |
Noemy Starita Luigi Buonaguro Franco M. Buonaguro Maria Lina Tornesello |
author_sort |
Noemy Starita |
title |
Telomerase promoter mutations in human immunodeficiency virus-related conjunctiva neoplasia |
title_short |
Telomerase promoter mutations in human immunodeficiency virus-related conjunctiva neoplasia |
title_full |
Telomerase promoter mutations in human immunodeficiency virus-related conjunctiva neoplasia |
title_fullStr |
Telomerase promoter mutations in human immunodeficiency virus-related conjunctiva neoplasia |
title_full_unstemmed |
Telomerase promoter mutations in human immunodeficiency virus-related conjunctiva neoplasia |
title_sort |
telomerase promoter mutations in human immunodeficiency virus-related conjunctiva neoplasia |
publisher |
BMC |
series |
Journal of Translational Medicine |
issn |
1479-5876 |
publishDate |
2018-03-01 |
description |
Abstract Background Squamous cell carcinoma (SCC) of the conjunctiva is a common cancer in Africa mainly associated with solar ultraviolet (UV) exposure and human immunodeficiency virus (HIV) infection. We analyzed the role of HIV on the occurrence of telomerase reverse transcriptase (TERT) promoter mutations among a cohort of conjunctiva neoplasia Ugandan patients. Methods Telomerase reverse transcriptase promoter mutations were searched in 72 conjunctiva neoplasia cases, comprising SCC and intraepithelial neoplasia grade 1–3 (CIN1–3), as well as in 53 conjunctiva normal tissues and in 24 HIV-related Kaposi sarcoma. Results The average prevalence of TERT promoter mutations in conjunctiva neoplasia was 31.9%. The mutation rates were significantly higher in HIV-positive (31.8% of CIN1 and CIN2, 46.2% of CIN3 and SCC,) than HIV-negative patients (22.2% of CIN1 and CIN2, 13.3% of CIN3 and SCC). Such mutations were rarely identified among HIV-positive conjunctiva controls (3.6%) and never in Kaposi sarcoma lesions. The most frequent variations were the hot spots − 124G>A and − 146G>A and tandem transitions − 124_125GG>AA and − 138_139GG>AA. Conclusions Telomerase reverse transcriptase promoter mutations are early events in conjunctival neoplasia and could be used for timely diagnosis of conjunctiva tumours. The high frequency of UV-signatures in HIV-positive conjunctiva lesions suggests an additive effect of the virus to UV-related mutagenesis. |
topic |
TERT promoter Mutations Conjunctiva neoplasia Kaposi sarcoma HIV Africa |
url |
http://link.springer.com/article/10.1186/s12967-018-1456-0 |
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