Evaluation of hTERT gene expression and chromosome 7 copy number variation in anal squamous intra-epithelial lesions: A pilot study

Background: Akin to cervical squamous intra-epithelial neoplasia (CIN), anal squamous intra-epithelial lesion (a-SIL) is attributed to persistent infection with high-risk human papilloma virus infection. Amplification of human telomerase reverse transcriptase (hTERT) gene and aneuploidy are known to...

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Main Authors: Tanvi Arora, Neelam Wadhwa, Divya Aggarwal, Deepika Pandhi, Preeti Diwaker, Vinod K Arora
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2022-01-01
Series:Journal of Cytology
Subjects:
Online Access:http://www.jcytol.org/article.asp?issn=0970-9371;year=2022;volume=39;issue=1;spage=14;epage=19;aulast=Arora
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author Tanvi Arora
Neelam Wadhwa
Divya Aggarwal
Deepika Pandhi
Preeti Diwaker
Vinod K Arora
author_facet Tanvi Arora
Neelam Wadhwa
Divya Aggarwal
Deepika Pandhi
Preeti Diwaker
Vinod K Arora
author_sort Tanvi Arora
collection DOAJ
description Background: Akin to cervical squamous intra-epithelial neoplasia (CIN), anal squamous intra-epithelial lesion (a-SIL) is attributed to persistent infection with high-risk human papilloma virus infection. Amplification of human telomerase reverse transcriptase (hTERT) gene and aneuploidy are known to correlate with CIN evolution. It is plausible that the underlying genetic events in a-SIL are similar. We conducted this cross-sectional analytical study with the objective of determining expression of hTERT gene expression and chromosome 7, as marker of cell ploidy in a-SIL. Methods: Conventional anal cytology was performed in 86 adult consenting subjects with history of receptive anal intercourse (RAI) and 4 controls without history of RAI. Cases with a-SIL and controls were subjected to fluorescent in-situ hybridization (FISH) to evaluate hTERT gene and chromosome 7 expression, as marker of cell ploidy. Results were expressed as number of abnormal nuclei (≥3 respective signals), maximum degree of amplification, mean signals/nucleus and proportion of cases showing abnormal nuclei. Results: Twenty cases showed a-SIL; with 15 atypical squamous cells of undetermined significance (ASCUS), 3 low grade squamous intra-epithelial lesion (LSIL) and 2 cases of high-risk cytology. Expression of both hTERT gene and chromosome 7 increased from controls to ASCUS to LSIL with concomitant increase in proportion of cases having abnormal hTERT gene and chromosome 7 expression. Conclusions: Positive association of hTERT gene with a-SIL suggests its possible role in evolution of anal squamous abnormalities. Increase in chromosome 7 also correlated positively with a-SIL. These findings corroborate the similarities between squamous carcinogenesis in CIN and a-SIL.
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spelling doaj.art-febee71ab15942ac9d6a10f48394fb592022-12-21T20:04:09ZengWolters Kluwer Medknow PublicationsJournal of Cytology0970-93712022-01-01391141910.4103/JOC.JOC_26_21Evaluation of hTERT gene expression and chromosome 7 copy number variation in anal squamous intra-epithelial lesions: A pilot studyTanvi AroraNeelam WadhwaDivya AggarwalDeepika PandhiPreeti DiwakerVinod K AroraBackground: Akin to cervical squamous intra-epithelial neoplasia (CIN), anal squamous intra-epithelial lesion (a-SIL) is attributed to persistent infection with high-risk human papilloma virus infection. Amplification of human telomerase reverse transcriptase (hTERT) gene and aneuploidy are known to correlate with CIN evolution. It is plausible that the underlying genetic events in a-SIL are similar. We conducted this cross-sectional analytical study with the objective of determining expression of hTERT gene expression and chromosome 7, as marker of cell ploidy in a-SIL. Methods: Conventional anal cytology was performed in 86 adult consenting subjects with history of receptive anal intercourse (RAI) and 4 controls without history of RAI. Cases with a-SIL and controls were subjected to fluorescent in-situ hybridization (FISH) to evaluate hTERT gene and chromosome 7 expression, as marker of cell ploidy. Results were expressed as number of abnormal nuclei (≥3 respective signals), maximum degree of amplification, mean signals/nucleus and proportion of cases showing abnormal nuclei. Results: Twenty cases showed a-SIL; with 15 atypical squamous cells of undetermined significance (ASCUS), 3 low grade squamous intra-epithelial lesion (LSIL) and 2 cases of high-risk cytology. Expression of both hTERT gene and chromosome 7 increased from controls to ASCUS to LSIL with concomitant increase in proportion of cases having abnormal hTERT gene and chromosome 7 expression. Conclusions: Positive association of hTERT gene with a-SIL suggests its possible role in evolution of anal squamous abnormalities. Increase in chromosome 7 also correlated positively with a-SIL. These findings corroborate the similarities between squamous carcinogenesis in CIN and a-SIL.http://www.jcytol.org/article.asp?issn=0970-9371;year=2022;volume=39;issue=1;spage=14;epage=19;aulast=Aroraanal squamous intra-epithelial lesionchromosome 7fluorescent in-situ hybridizationhuman telomerase reverse transcriptase
spellingShingle Tanvi Arora
Neelam Wadhwa
Divya Aggarwal
Deepika Pandhi
Preeti Diwaker
Vinod K Arora
Evaluation of hTERT gene expression and chromosome 7 copy number variation in anal squamous intra-epithelial lesions: A pilot study
Journal of Cytology
anal squamous intra-epithelial lesion
chromosome 7
fluorescent in-situ hybridization
human telomerase reverse transcriptase
title Evaluation of hTERT gene expression and chromosome 7 copy number variation in anal squamous intra-epithelial lesions: A pilot study
title_full Evaluation of hTERT gene expression and chromosome 7 copy number variation in anal squamous intra-epithelial lesions: A pilot study
title_fullStr Evaluation of hTERT gene expression and chromosome 7 copy number variation in anal squamous intra-epithelial lesions: A pilot study
title_full_unstemmed Evaluation of hTERT gene expression and chromosome 7 copy number variation in anal squamous intra-epithelial lesions: A pilot study
title_short Evaluation of hTERT gene expression and chromosome 7 copy number variation in anal squamous intra-epithelial lesions: A pilot study
title_sort evaluation of htert gene expression and chromosome 7 copy number variation in anal squamous intra epithelial lesions a pilot study
topic anal squamous intra-epithelial lesion
chromosome 7
fluorescent in-situ hybridization
human telomerase reverse transcriptase
url http://www.jcytol.org/article.asp?issn=0970-9371;year=2022;volume=39;issue=1;spage=14;epage=19;aulast=Arora
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