Molecular landscape of proliferative verrucous leukoplakia: a systematic review
Molecular landscape of proliferative verrucous leukoplakia: a systematic review
Proliferative verrucous leukoplakia (PVL) is a rare oral potentially malignant disorder characterised by multifocal origin and unpredictable long-term evolution to oral squamous cell carcinoma (OSCC) or oral verrucous carcinoma (OVC). Currently no predictive biomarkers are in clinical use. We aimed to explore the genomic profile of PVL. A total of 685 cases in 26 studies were included in this review. Genomic data were presented in 15% of studies and biomarker analysis was reported in 85% of studies. At first clinical presentation, PVL is characterised by a high loss of heterozygosity (LOH), similar to OSCC, and low copy number alterations (CNA). As these progress, more CNAs and mutations in CDKN2A and alterations to ELAVL1 expression are noted, but no TP53 mutations are identified. There is significantly lower LOH at 17p in early PVL compared with OSCC (p = 0.037). Deletions in chromosomal loci 17q12, 5q31.1 and amplifications in 7q11.2, 7q22 are shared between early lesions and OVC. PVL shows CNAs at 11q31. WNT signalling pathway genes (SUZ12, CTTN and FOLR3) are enriched in CN-altered regions. PVL stroma shows significantly lower α-SMA and higher CD34 expression than OVC and OSCC. The exact genomic landscape is currently unclear, and further studies are necessary to unravel this mystery.
Humans, Mouth Neoplasms/genetics, Carcinoma, Squamous Cell/genetics, Leukoplakia, Oral/genetics, Squamous Cell Carcinoma of Head and Neck, Carcinoma, Verrucous/genetics, Head and Neck Neoplasms
118-127
Nissanka-Jayasuriya, Eranga H.
163c0e19-7275-406c-bc73-5a1f17e6aa31
Fenton, Tim R.
087260ba-f6a1-405a-85df-099d05810a84
Rose-Zerilli, Matthew J.J.
08b3afa4-dbc2-4c0d-a852-2a9f33431199
27 February 2024
Nissanka-Jayasuriya, Eranga H.
163c0e19-7275-406c-bc73-5a1f17e6aa31
Fenton, Tim R.
087260ba-f6a1-405a-85df-099d05810a84
Rose-Zerilli, Matthew J.J.
08b3afa4-dbc2-4c0d-a852-2a9f33431199
Nissanka-Jayasuriya, Eranga H., Fenton, Tim R. and Rose-Zerilli, Matthew J.J.
(2024)
Molecular landscape of proliferative verrucous leukoplakia: a systematic review.
British Journal of Oral and Maxillofacial Surgery, 62 (2), .
(doi:10.1016/j.bjoms.2023.11.012).
Abstract
Proliferative verrucous leukoplakia (PVL) is a rare oral potentially malignant disorder characterised by multifocal origin and unpredictable long-term evolution to oral squamous cell carcinoma (OSCC) or oral verrucous carcinoma (OVC). Currently no predictive biomarkers are in clinical use. We aimed to explore the genomic profile of PVL. A total of 685 cases in 26 studies were included in this review. Genomic data were presented in 15% of studies and biomarker analysis was reported in 85% of studies. At first clinical presentation, PVL is characterised by a high loss of heterozygosity (LOH), similar to OSCC, and low copy number alterations (CNA). As these progress, more CNAs and mutations in CDKN2A and alterations to ELAVL1 expression are noted, but no TP53 mutations are identified. There is significantly lower LOH at 17p in early PVL compared with OSCC (p = 0.037). Deletions in chromosomal loci 17q12, 5q31.1 and amplifications in 7q11.2, 7q22 are shared between early lesions and OVC. PVL shows CNAs at 11q31. WNT signalling pathway genes (SUZ12, CTTN and FOLR3) are enriched in CN-altered regions. PVL stroma shows significantly lower α-SMA and higher CD34 expression than OVC and OSCC. The exact genomic landscape is currently unclear, and further studies are necessary to unravel this mystery.
Text
OO-S-22-00231
- Accepted Manuscript
More information
Accepted/In Press date: 28 November 2023
e-pub ahead of print date: 5 December 2023
Published date: 27 February 2024
Additional Information:
Funding Information: Mrs Paula Sands, Engagement Librarian, University of Southampton, for her assistance in the design and technical support of the systematic review. Also, for her help in proofreading and reference check. Dr Nicola Chaston, Consultant Histopathologist, William Harvey Hospital, East Kent Hospitals University NHS trust, Kent, UK, for her assistance in the review process.
Crown Copyright © 2023. Published by Elsevier Ltd. All rights reserved.
Keywords:
Humans, Mouth Neoplasms/genetics, Carcinoma, Squamous Cell/genetics, Leukoplakia, Oral/genetics, Squamous Cell Carcinoma of Head and Neck, Carcinoma, Verrucous/genetics, Head and Neck Neoplasms
Identifiers
Local EPrints ID: 487700
URI: http://eprints.soton.ac.uk/id/eprint/487700
ISSN: 0266-4356
PURE UUID: 59f773e7-9e4e-44c1-a405-47f5ef87c344
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Date deposited: 01 Mar 2024 17:39
Last modified: 05 Dec 2024 05:01
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Contributors
Author:
Eranga H. Nissanka-Jayasuriya
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