Genomic DNA Copy Number Aberrations, Histological Diagnosis, Oral Subsite and Aneuploidy in OPMDs/OSCCs.

Oral potentially malignant disorders (OPMDs) characterized by the presence of dysplasia and DNA copy number aberrations (CNAs), may reflect chromosomal instability (CIN) and predispose to oral squamous cell carcinoma (OSCC). Early detection of OPMDs with such characteristics may play a crucial role...

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Main Authors: Patrizio Castagnola, Gabriele Zoppoli, Sergio Gandolfo, Massimiliano Monticone, Davide Malacarne, Gabriella Cirmena, David Brown, Cinzia Aiello, Massimo Maffei, Roberto Marino, Walter Giaretti, Monica Pentenero
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2015-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC4634987?pdf=render
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author Patrizio Castagnola
Gabriele Zoppoli
Sergio Gandolfo
Massimiliano Monticone
Davide Malacarne
Gabriella Cirmena
David Brown
Cinzia Aiello
Massimo Maffei
Roberto Marino
Walter Giaretti
Monica Pentenero
author_facet Patrizio Castagnola
Gabriele Zoppoli
Sergio Gandolfo
Massimiliano Monticone
Davide Malacarne
Gabriella Cirmena
David Brown
Cinzia Aiello
Massimo Maffei
Roberto Marino
Walter Giaretti
Monica Pentenero
author_sort Patrizio Castagnola
collection DOAJ
description Oral potentially malignant disorders (OPMDs) characterized by the presence of dysplasia and DNA copy number aberrations (CNAs), may reflect chromosomal instability (CIN) and predispose to oral squamous cell carcinoma (OSCC). Early detection of OPMDs with such characteristics may play a crucial role in OSCC prevention. The aim of this study was to explore the relationship between CNAs, histological diagnosis, oral subsite and aneuploidy in OPMDs/OSCCs. Samples from OPMDs and OSCCs were processed by high-resolution DNA flow cytometry (hr DNA-FCM) to determine the relative nuclear DNA content. Additionally, CNAs were obtained for a subset of these samples by genome-wide array comparative genomic hybridization (aCGH) using DNA extracted from either diploid or aneuploid nuclei suspension sorted by FCM. Our study shows that: i) aneuploidy, global genomic imbalance (measured as the total number of CNAs) and specific focal CNAs occur early in the development of oral cancer and become more frequent at later stages; ii) OPMDs limited to tongue (TNG) mucosa display a higher frequency of aneuploidy compared to OPMDs confined to buccal mucosa (BM) as measured by DNA-FCM; iii) TNG OPMDs/OSCCs show peculiar features of CIN compared to BM OPMDs/OSCCs given the preferential association with total broad and specific focal CNA gains. Follow-up studies are warranted to establish whether the presence of DNA aneuploidy and specific focal or broad CNAs may predict cancer development in non-dysplastic OPMDs.
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spelling doaj.art-e8e559c79f6a46409587543e8b6011262022-12-22T03:07:48ZengPublic Library of Science (PLoS)PLoS ONE1932-62032015-01-011011e014229410.1371/journal.pone.0142294Genomic DNA Copy Number Aberrations, Histological Diagnosis, Oral Subsite and Aneuploidy in OPMDs/OSCCs.Patrizio CastagnolaGabriele ZoppoliSergio GandolfoMassimiliano MonticoneDavide MalacarneGabriella CirmenaDavid BrownCinzia AielloMassimo MaffeiRoberto MarinoWalter GiarettiMonica PenteneroOral potentially malignant disorders (OPMDs) characterized by the presence of dysplasia and DNA copy number aberrations (CNAs), may reflect chromosomal instability (CIN) and predispose to oral squamous cell carcinoma (OSCC). Early detection of OPMDs with such characteristics may play a crucial role in OSCC prevention. The aim of this study was to explore the relationship between CNAs, histological diagnosis, oral subsite and aneuploidy in OPMDs/OSCCs. Samples from OPMDs and OSCCs were processed by high-resolution DNA flow cytometry (hr DNA-FCM) to determine the relative nuclear DNA content. Additionally, CNAs were obtained for a subset of these samples by genome-wide array comparative genomic hybridization (aCGH) using DNA extracted from either diploid or aneuploid nuclei suspension sorted by FCM. Our study shows that: i) aneuploidy, global genomic imbalance (measured as the total number of CNAs) and specific focal CNAs occur early in the development of oral cancer and become more frequent at later stages; ii) OPMDs limited to tongue (TNG) mucosa display a higher frequency of aneuploidy compared to OPMDs confined to buccal mucosa (BM) as measured by DNA-FCM; iii) TNG OPMDs/OSCCs show peculiar features of CIN compared to BM OPMDs/OSCCs given the preferential association with total broad and specific focal CNA gains. Follow-up studies are warranted to establish whether the presence of DNA aneuploidy and specific focal or broad CNAs may predict cancer development in non-dysplastic OPMDs.http://europepmc.org/articles/PMC4634987?pdf=render
spellingShingle Patrizio Castagnola
Gabriele Zoppoli
Sergio Gandolfo
Massimiliano Monticone
Davide Malacarne
Gabriella Cirmena
David Brown
Cinzia Aiello
Massimo Maffei
Roberto Marino
Walter Giaretti
Monica Pentenero
Genomic DNA Copy Number Aberrations, Histological Diagnosis, Oral Subsite and Aneuploidy in OPMDs/OSCCs.
PLoS ONE
title Genomic DNA Copy Number Aberrations, Histological Diagnosis, Oral Subsite and Aneuploidy in OPMDs/OSCCs.
title_full Genomic DNA Copy Number Aberrations, Histological Diagnosis, Oral Subsite and Aneuploidy in OPMDs/OSCCs.
title_fullStr Genomic DNA Copy Number Aberrations, Histological Diagnosis, Oral Subsite and Aneuploidy in OPMDs/OSCCs.
title_full_unstemmed Genomic DNA Copy Number Aberrations, Histological Diagnosis, Oral Subsite and Aneuploidy in OPMDs/OSCCs.
title_short Genomic DNA Copy Number Aberrations, Histological Diagnosis, Oral Subsite and Aneuploidy in OPMDs/OSCCs.
title_sort genomic dna copy number aberrations histological diagnosis oral subsite and aneuploidy in opmds osccs
url http://europepmc.org/articles/PMC4634987?pdf=render
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