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. 2022 Jan-Mar;39(1):14-19.
doi: 10.4103/JOC.JOC_26_21. Epub 2022 Jan 21.

Evaluation of hTERT Gene Expression and Chromosome 7 Copy Number Variation in Anal Squamous Intra-Epithelial Lesions: A Pilot Study

Tanvi Arora  1 , Neelam Wadhwa  1 , Divya Aggarwal  1 , Deepika Pandhi  2 , Preeti Diwaker  1 , Vinod K Arora  1
Affiliations

Evaluation of hTERT Gene Expression and Chromosome 7 Copy Number Variation in Anal Squamous Intra-Epithelial Lesions: A Pilot Study

Tanvi Arora et al. J Cytol. 2022 Jan-Mar.

Abstract

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.

Keywords: Anal squamous intra-epithelial lesion; chromosome 7; fluorescent in-situ hybridization; human telomerase reverse transcriptase.

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Conflict of interest statement

There are no conflicts of interest.

Figures

Figure 1
Figure 1
Representative FISH images in a-SIL cases. Expression of hTERT gene in control (a), ASCUS (b) and LSIL (c). The hTERT gene and chromosome 5 centromere signals are green and red respectively (Oil immersion, 1000x). Cen7 expression (red signal) in in ASCUS (d) and LSIL (e). (Oil immersion, 1000x)
Figure 2
Figure 2
Dot-plots depicting correlation between cytologic diagnoses and hTERT (blue dots) and cen7 (orange dots) indices: (a) ab-nuc (b) m-sig and (c) A-max respectively. In case of indices having same values, both dots overlap
See this image and copyright information in PMC

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