Clonal Relationship Between Lichen Sclerosus, Differentiated Vulvar Intra-epithelial Neoplasia and Non HPV-related Vulvar Squamous Cell Carcinoma.
Vulvar cancer
clonal evolution
differentiated vulvar intraepithelial neoplasia
lichen sclerosus
squamous cell carcinoma
vulvar lichen sclerosus
vulvar neoplasms
Journal
Cancer genomics & proteomics
ISSN: 1790-6245
Titre abrégé: Cancer Genomics Proteomics
Pays: Greece
ID NLM: 101188791
Informations de publication
Date de publication:
Historique:
received:
03
10
2019
revised:
19
12
2019
accepted:
10
01
2020
entrez:
29
2
2020
pubmed:
29
2
2020
medline:
26
9
2020
Statut:
ppublish
Résumé
Differentiated vulvar intraepithelial neoplasia (dVIN) and lichen sclerosus (LS) can give rise to vulvar squamous cell carcinoma (VSCC), but genetic evidence is currently still limited. We aimed to determine genetic abnormalities in VSCC and backtrack these abnormalities in the dVIN and LS lesions. DNA from VSCC and patient-matched dVIN and LS samples of twelve patients was collected. High-resolution genome-wide copy number analysis was performed and subsequently, we sequenced TP53. Copy number alterations were identified in all VSCC samples. One dVIN lesion presented with three copy number alterations that were preserved in the paired VSCC sample. Targeted sequencing of TP53 identified mutations in five VSCCs. All five mutations were traced back in the dVIN (n=5) or the LS (n=1) with frequencies ranging from 3-19%. Our data provide genetic evidence for a clonal relationship between VSCC and dVIN or LS.
Sections du résumé
BACKGROUND/AIM
OBJECTIVE
Differentiated vulvar intraepithelial neoplasia (dVIN) and lichen sclerosus (LS) can give rise to vulvar squamous cell carcinoma (VSCC), but genetic evidence is currently still limited. We aimed to determine genetic abnormalities in VSCC and backtrack these abnormalities in the dVIN and LS lesions.
MATERIALS AND METHODS
METHODS
DNA from VSCC and patient-matched dVIN and LS samples of twelve patients was collected. High-resolution genome-wide copy number analysis was performed and subsequently, we sequenced TP53.
RESULTS
RESULTS
Copy number alterations were identified in all VSCC samples. One dVIN lesion presented with three copy number alterations that were preserved in the paired VSCC sample. Targeted sequencing of TP53 identified mutations in five VSCCs. All five mutations were traced back in the dVIN (n=5) or the LS (n=1) with frequencies ranging from 3-19%.
CONCLUSION
CONCLUSIONS
Our data provide genetic evidence for a clonal relationship between VSCC and dVIN or LS.
Identifiants
pubmed: 32108037
pii: 17/2/151
doi: 10.21873/cgp.20175
pmc: PMC7078831
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
151-160Informations de copyright
Copyright© 2020, International Institute of Anticancer Research (Dr. George J. Delinasios), All rights reserved.
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