Clinical validation of 13-gene DNA methylation analysis in oral brushing samples for detection of oral carcinoma: Italian multicenter study.
algorithm
bisulfite sequencing
diagnostic test
oral brushing
oral squamous cell carcinoma
quantitative DNA methylation analysis
Journal
Head & neck
ISSN: 1097-0347
Titre abrégé: Head Neck
Pays: United States
ID NLM: 8902541
Informations de publication
Date de publication:
05 2021
05 2021
Historique:
revised:
27
11
2020
received:
20
07
2020
accepted:
15
01
2021
pubmed:
30
1
2021
medline:
1
7
2021
entrez:
29
1
2021
Statut:
ppublish
Résumé
The aim of this Italian multicenter study was to evaluate the diagnostic performance of a minimally invasive method for the detection of oral squamous cell carcinoma (OSCC) based on 13-gene DNA methylation analysis in oral brushing samples. Oral brushing specimens were collected in 11 oral medicine centers across Italy. Twenty brushing specimens were collected by each center, 10 from patients with OSCC, and 10 from healthy volunteers. DNA methylation analysis was performed in blindness, and each sample was determined as positive or negative based on a predefined cutoff value. DNA amplification failed in 4 of 220 (1.8%) samples. Of the specimens derived from patients with OSCC, 93.6% (103/110) were detected as positive, and 84.9% (90/106) of the samples from healthy volunteers were negative. These data confirmed the diagnostic performance of our novel procedure in a large cohort of brushing specimens collected from 11 different centers and analyzed in blindness.
Sections du résumé
BACKGROUND
The aim of this Italian multicenter study was to evaluate the diagnostic performance of a minimally invasive method for the detection of oral squamous cell carcinoma (OSCC) based on 13-gene DNA methylation analysis in oral brushing samples.
METHODS
Oral brushing specimens were collected in 11 oral medicine centers across Italy. Twenty brushing specimens were collected by each center, 10 from patients with OSCC, and 10 from healthy volunteers. DNA methylation analysis was performed in blindness, and each sample was determined as positive or negative based on a predefined cutoff value.
RESULTS
DNA amplification failed in 4 of 220 (1.8%) samples. Of the specimens derived from patients with OSCC, 93.6% (103/110) were detected as positive, and 84.9% (90/106) of the samples from healthy volunteers were negative.
CONCLUSION
These data confirmed the diagnostic performance of our novel procedure in a large cohort of brushing specimens collected from 11 different centers and analyzed in blindness.
Types de publication
Journal Article
Multicenter Study
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1563-1573Informations de copyright
© 2021 Wiley Periodicals LLC.
Références
Bray F, Ferlay J, Soerjomataram I, Siegel RL, Torre LA, Jemal A. Global cancer statistics 2018: GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries. CA Cancer J Clin. 2018;68(6):394-424.
Ng JH, Iyer NG, Tan M-H, Edgren G. Changing epidemiology of oral squamous cell carcinoma of the tongue: a global study. Head Neck. 2017;39(2):297-304.
Braakhuis BJM, Tabor MP, Leemans CR, van der Waal I, Snow GB, Brakenhoff RH. Second primary tumors and field cancerization in oral and oropharyngeal cancer: molecular techniques provide new insights and definitions. Head Neck. 2002;24(2):198-206.
Lippman SM, Hong WK. Second malignant tumors in head and neck squamous cell carcinoma: the overshadowing threat for patients with early-stage disease. Int J Radiat Oncol Biol Phys. 1989;17(3):691-694.
National Cancer Institute. Surveillance, epidemiology, and end results program: oral cavity an pharynx cancer. https://seer.cancer.gov/statfacts/html/oralcav.html.
Brenner H. Long-term survival rates of cancer patients achieved by the end of the 20th century: a period analysis. Lancet. 2002;360(9340):1131-1135.
Thomson PJ. Field change and oral cancer: new evidence for widespread carcinogenesis? Int J Oral Maxillofac Surg. 2002;31(3):262-266.
Brocklehurst PR, Speight PM. Screening for mouth cancer: the pros and cons of a national programme. Br Dent J. 2018;225(9):815-819.
Giovannacci I, Vescovi P, Manfredi M, Meleti M. Non-invasive visual tools for diagnosis of oral cancer and dysplasia: a systematic review. Med Oral Patol Oral Cir Bucal. 2016;21(3):e305-e315.
Morikawa T, Shibahara T, Nomura T, Katakura A, Takano M. Non-invasive early detection of oral cancers using fluorescence visualization with optical instruments. Cancers. 2020;12(10):2771.
Brocklehurst P, Kujan O, Glenny A-M, et al. Screening programmes for the early detection and prevention of oral cancer. Cochrane Database Syst Rev. 2010;(11):CD004150.
Kaur J, Jacobs R, Huang Y, Salvo N, Politis C. Salivary biomarkers for oral cancer and pre-cancer screening: a review. Clin Oral Investig. 2018;22(2):633-640.
Morandi L, Gissi D, Tarsitano A, et al. CpG location and methylation level are crucial factors for the early detection of oral squamous cell carcinoma in brushing samples using bisulfite sequencing of a 13-gene panel. Clin Epigenetics. 2017;9:85.
Gissi DB, Tarsitano A, Gabusi A, et al. 13-gene DNA methylation analysis from oral brushing: a promising non invasive tool in the follow-up of oral cancer patients. J Clin Med. 2019;8(12):2107.
Morandi L, Gissi D, Tarsitano A, et al. DNA methylation analysis by bisulfite next-generation sequencing for early detection of oral squamous cell carcinoma and high-grade squamous intraepithelial lesion from oral brushing. J Craniomaxillofac Surg. 2015;43(8):1494-1500.
Gissi DB, Morandi L, Gabusi A, et al. A noninvasive test for MicroRNA expression in oral squamous cell carcinoma. Int J Mol Sci. 2018;19(6):1789.
Morandi L, Righi A, Maletta F, et al. Somatic mutation profiling of hobnail variant of papillary thyroid carcinoma. Endocr Relat Cancer. 2017;24(2):107-117.
Afgan E, Baker D, Batut B, et al. The Galaxy platform for accessible, reproducible and collaborative biomedical analyses: 2018 update. Nucleic Acids Res. 2018;46(W1):W537-W544.
Hu K, Ting AH, Li J. BSPAT: a fast online tool for DNA methylation co-occurrence pattern analysis based on high-throughput bisulfite sequencing data. BMC Bioinformatics. 2015;16:220.
Krainer J, Weinhäusel A, Hanak K, et al. EPIC-TABSAT: analysis tool for targeted bisulfite sequencing experiments and array-based methylation studies. Nucleic Acids Res. 2019;47(W1):W166-W170.
Gruntman E, Qi Y, Slotkin RK, Roeder T, Martienssen RA, Sachidanandam R. Kismeth: analyzer of plant methylation states through bisulfite sequencing. BMC Bioinformatics. 2008;9:371.
Goksuluk D, Korkmaz S, Zararsiz G, Karaagaoglu AE. easyROC: an interactive web-tool for ROC curve analysis using R language environment. R J. 2016;8(2):213-230.
Metsalu T, Vilo J. ClustVis: a web tool for visualizing clustering of multivariate data using principal component analysis and heatmap. Nucleic Acids Res. 2015;43(W1):W566-W570.
Tang KD, Kenny L, Perry C, Frazer I, Punyadeera C. The overexpression of salivary cytokeratins as potential diagnostic biomarkers in head and neck squamous cell carcinomas. Oncotarget. 2017;8(42):72272-72280.
Lim Y, Fukuma N, Totsika M, Kenny L, Morrison M, Punyadeera C. The performance of an oral microbiome biomarker panel in predicting pral cavity and oropharyngeal cancers. Front Cell Infect Microbiol. 2018;8:267.
Franzmann EJ, Reategui EP, Pereira LHM, et al. Salivary protein and solCD44 levels as a potential screening tool for early detection of head and neck squamous cell carcinoma. Head Neck. 2012;34(5):687-695.
Wang Q, Gao P, Wang X, Duan Y. Investigation and identification of potential biomarkers in human saliva for the early diagnosis of oral squamous cell carcinoma. Clin Chim Acta. 2014;427:79-85.
Peisker A, Raschke G-F, Fahmy M-D, et al. Salivary MMP-9 in the detection of oral squamous cell carcinoma. Med Oral Patol Oral Cir Bucal. 2017;22(3):e270-e275.
Pereira LHM, Reis IM, Reategui EP, et al. Risk stratification system for oral cancer screening. Cancer Prev Res (Phila). 2016;9(6):445-455.
Shi L, Wang Y, Li C, Liu W. Current evidence on DNA aneuploidy cytology in noninvasive detection of oral cancer. Oral Oncol. 2020;101:104367.
Nagata S, Hamada T, Yamada N, et al. Aberrant DNA methylation of tumor-related genes in oral rinse: a noninvasive method for detection of oral squamous cell carcinoma. Cancer. 2012;118(17):4298-4308.
Huang Y-K, Peng B-Y, Wu C-Y, Su C-T, Wang H-C, Lai H-C. DNA methylation of PAX1 as a biomarker for oral squamous cell carcinoma. Clin Oral Investig. 2014;18(3):801-808.
Puttipanyalears C, Arayataweegool A, Chalertpet K, et al. TRH site-specific methylation in oral and oropharyngeal squamous cell carcinoma. BMC Cancer. 2018;18(1):786.
Arantes LMRB, de Carvalho AC, Melendez ME, et al. Validation of methylation markers for diagnosis of oral cavity cancer. Eur J Cancer. 2015;51(5):632-641.
Liyanage C, Wathupola A, Muraleetharan S, Perera K, Punyadeera C, Udagama P. Promoter hypermethylation of tumor-suppressor genes p16INK4a, RASSF1A, TIMP3, and PCQAP/MED15 in salivary DNA as a quadruple biomarker panel for early detection of oral and oropharyngeal cancers. Biomolecules. 2019;9(4):148.
Cheng S-J, Chang C-F, Ko H-H, et al. Hypermethylated ZNF582 and PAX1 genes in mouth rinse samples as biomarkers for oral dysplasia and oral cancer detection. Head Neck. 2018;40(2):355-368.
Kordi-Tamandani DM, Moazeni-Roodi A-K, Rigi-Ladiz M-A, Hashemi M, Birjandian E, Torkamanzehi A. Promoter hypermethylation and expression profile of MGMT and CDH1 genes in oral cavity cancer. Arch Oral Biol. 2010;55(10):809-814.
Demokan S, Chang X, Chuang A, et al. KIF1A and EDNRB are differentially methylated in primary HNSCC and salivary rinses. Int J Cancer. 2010;127(10):2351-2359.
Guerrero-Preston R, Michailidi C, Marchionni L, et al. Key tumor suppressor genes inactivated by “greater promoter” methylation and somatic mutations in head and neck cancer. Epigenetics. 2014;9(7):1031-1046.
Bock C, Tomazou EM, Brinkman AB, et al. Quantitative comparison of genome-wide DNA methylation mapping technologies. Nat Biotechnol. 2010;28(10):1106-1114.