Strategic approaches in oral squamous cell carcinoma diagnostics using liquid biopsy.
liquid biopsy
next generation sequencing
oral squamous cell carcinoma
Journal
Periodontology 2000
ISSN: 1600-0757
Titre abrégé: Periodontol 2000
Pays: Denmark
ID NLM: 9313276
Informations de publication
Date de publication:
27 Apr 2024
27 Apr 2024
Historique:
revised:
06
02
2024
received:
01
11
2023
accepted:
23
03
2024
medline:
27
4
2024
pubmed:
27
4
2024
entrez:
27
4
2024
Statut:
aheadofprint
Résumé
Liquid biopsy is a noninvasive diagnostic technique used for monitoring cancer utilizing specific genetic biomarkers present in bodily fluids, such as blood, saliva, or urine. These analyses employ multiple biomolecular sources including circulating tumor DNA (ctDNA), circulating tumor cells (CTCs), and exosomes (that contain DNA fragments) to detect genetic biomarkers that can predict, disclose, and/or monitor cancers. Levels of these biomarkers can inform on the presence of cancer, its genetic characteristics, and its potential treatment response and also provide predictive genetic predisposition information for specific cancers including oral squamous cell carcinomas (OSCC). Liquid biopsies can aid cancer management as they offer real-time dynamic information on the response to say chemotherapy or radiotherapy and recurrence following surgical excision. Unlike traditional tissue biopsies, which are invasive with a degree of morbidity and require specific tumor location sampling, liquid biopsies are noninvasive and can be repeated frequently. For oral squamous cell carcinoma, on which this review focuses, liquid biopsy of blood or saliva can be valuable in predicting susceptibility, providing early detection, and monitoring the disease's progression and response to therapy. This review gives a general narrative overview of the technology, its current medical usage, and advantages and disadvantages compared with current techniques and discusses a range of current potential biomarkers for disclosing OSCC and predicting its risk. Oral squamous cell carcinoma is all too often detected in the late stages. In future, liquid biopsy may provide an effective screening process such that cancers including OSCC will be detected in the early stages rather than later when prognosis is poor and morbidity and debilitation are greater. In this screening process, periodontists and hygienists have a critical role in that they are adept in examining mucosa, they see patients with shared risk factors for periodontitis and OSCC, namely smoking and poor oral hygiene, and they see patients frequently such that OSCC examinations should be a routine part of the recall visit. With this additional screening manpower, oral medicine and oral surgery colleagues will detect OSCC earlier and this coupled with new techniques such as liquid biopsy may greatly decrease global morbidity in OSCC.
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
© 2024 The Authors. Periodontology 2000 published by John Wiley & Sons Ltd.
Références
Warnakulasuriya S. Causes of oral cancer – an appraisal of controversies. Br Dent J. 2009;207(10):471‐475.
Blot WJ, McLaughlin JK, Winn DM, et al. Smoking and drinking in relation to oral and pharyngeal cancer. Cancer Res. 1988;48(11):3282‐3287.
Hashibe M, Brennan P, Benhamou S, et al. Alcohol drinking in never users of tobacco, cigarette smoking in never drinkers, and the risk of head and neck cancer: pooled analysis in the international head and neck cancer epidemiology consortium. JNCI J Natl Cancer Inst. 2007;99(10):777‐789.
IARC Working Group on the Evaluation of Carcinogenic Risks to Humans. Betel‐quid and areca‐nut chewing and some areca‐nut derived nitrosamines. IARC Monogr Eval Carcinog Risks Hum. 2004;85:1‐334.
Chaturvedi AK, Engels EA, Pfeiffer RM, et al. Human papillomavirus and rising oropharyngeal cancer incidence in the United States. J Clin Oncol. 2011;29(32):4294‐4301.
Poeta ML, Manola J, Goldwasser MA, et al. TP53 mutations and survival in squamous‐cell carcinoma of the head and neck. N Engl J Med. 2007;357(25):2552‐2561.
Sigismund S, Avanzato D, Lanzetti L. Emerging functions of the EGFR in cancer. Mol Oncol. 2018;12(1):3‐20.
Chien HT, Cheng SD, Liao CT, Wang HM, Huang SF. Amplification of the EGFR and CCND1 are coordinated and play important roles in the progression of oral squamous cell carcinomas. Cancers (Basel). 2019;11(6):760.
Cai D, Ma X, Guo H, et al. Prognostic value of p16, p53, and pcna in sarcoma and an evaluation of immune infiltration. J Orthop Surg Res. 2022;17(1):305.
Mok T, Wu YL, Lee JS, et al. Detection and dynamic changes of EGFR mutations from circulating tumor DNA as a predictor of survival outcomes in NSCLC patients treated with first‐line intercalated erlotinib and chemotherapy. Clin Cancer Res. 2015;21(14):3196‐3203.
Firigato I, López RVM, Curioni OA, De Antonio J, Gattás GF, de Toledo Gonçalves F. Many hands make light work: CNV of GSTM1 effect on the oral carcinoma risk. Cancer Epidemiol. 2022;78:102150.
Mohammadi H, Momeni Roochi M, Rezaei F, et al. Association between the CYP1A1 MspI polymorphism and risk of head and neck cancer: a meta‐analysis. Sci Rep. 2022;12(1):1527.
Yokoyama A. Genetic polymorphisms of alcohol and aldehyde dehydrogenases and risk for esophageal and head and neck cancers. Jpn J Clin Oncol. 2003;33(3):111‐121.
Warnakulasuriya KA, Nanayakkara BG. Reproducibility of an oral cancer and precancer detection program using a primary health care model in Sri Lanka. Cancer Detect Prev. 1991;15(5):331‐334.
Flygare L, Erdogan ST, Söderkvist K. PET/MR versus PET/CT for locoregional staging of oropharyngeal squamous cell cancer. Acta Radiol. 2023;64(5):1865‐1872.
Walsh T, Macey R, Kerr AR, Lingen MW, Ogden GR, Warnakulasuriya S. Diagnostic tests for oral cancer and potentially malignant disorders in patients presenting with clinically evident lesions. Cochrane Database Syst Rev. 2021;2021(7):CD010276.
Yang G, Wei L, Thong BKS, et al. A systematic review of oral biopsies, sample types, and detection techniques applied in relation to oral cancer detection. Biotech. 2022;11(1):5.
Wan JCM, Massie C, Garcia‐Corbacho J, et al. Liquid biopsies come of age: towards implementation of circulating tumour DNA. Nat Rev Cancer. 2017;17(4):223‐238.
Merker JD, Oxnard GR, Compton C, et al. Circulating tumor DNA analysis in patients with cancer: American Society of Clinical Oncology and College of American Pathologists Joint Review. J Clin Oncol. 2018;36(16):1631‐1641.
Diaz LA, Bardelli A. Liquid biopsies: genotyping circulating tumor DNA. J Clin Oncol. 2014;32(6):579‐586.
Siravegna G, Bardelli A. Genotyping cell‐free tumor DNA in the blood to detect residual disease and drug resistance. Genome Biol. 2014;15(8):449.
Pantel K, Alix‐Panabières C. Liquid biopsy and minimal residual disease — latest advances and implications for cure. Nat Rev Clin Oncol. 2019;16(7):409‐424.
Heitzer E, Ulz P, Geigl JB. Circulating tumor DNA as a liquid biopsy for cancer. Clin Chem. 2015;61(1):112‐123.
Cohen JD, Javed AA, Thoburn C, et al. Combined circulating tumor DNA and protein biomarker‐based liquid biopsy for the earlier detection of pancreatic cancers. Proc Natl Acad Sci. 2017;114(38):10202‐10207.
Phallen J, Sausen M, Adleff V, et al. Direct detection of early‐stage cancers using circulating tumor DNA. Sci Transl Med. 2017;9(403):eaan2415. doi:10.1126/scitranslmed.aan2415.
Madhavan B, Yue S, Galli U, et al. Combined evaluation of a panel of protein and miRNA serum‐exosome biomarkers for pancreatic cancer diagnosis increases sensitivity and specificity. Int J Cancer. 2015;136(11):2616‐2627.
Kalluri R. The biology and function of exosomes in cancer. J Clin Invest. 2016;126(4):1208‐1215.
Sheng W, Ogunwobi OO, Chen T, et al. Capture, release and culture of circulating tumor cells from pancreatic cancer patients using an enhanced mixing chip. Lab Chip. 2014;14(1):89‐98.
Hou HW, Warkiani ME, Khoo BL, et al. Isolation and retrieval of circulating tumor cells using centrifugal forces. Sci Rep. 2013;3(1):1259.
Schultz NA, Dehlendorff C, Jensen BV, et al. MicroRNA biomarkers in whole blood for detection of pancreatic cancer. JAMA. 2014;311(4):392‐404.
Manzano‐Moreno FJ, Costela‐Ruiz VJ, García‐Recio E, Olmedo‐Gaya MV, Ruiz C, Reyes‐Botella C. Role of salivary MicroRNA and cytokines in the diagnosis and prognosis of oral squamous cell carcinoma. Int J Mol Sci. 2021;22(22):12215.
Parkinson CA, Gale D, Piskorz AM, et al. Exploratory analysis of TP53 mutations in circulating tumour DNA as biomarkers of treatment response for patients with relapsed high‐grade serous ovarian carcinoma: a retrospective study. PLoS Med. 2016;13(12):e1002198.
Wang Z, Duan J, Cai S, et al. Assessment of blood tumor mutational burden as a potential biomarker for immunotherapy in patients with non–small cell lung cancer with use of a next‐generation sequencing cancer gene panel. JAMA Oncol. 2019;5(5):696‐702.
Tie J, Cohen JD, Wang Y, et al. Circulating tumor DNA analyses as markers of recurrence risk and benefit of adjuvant therapy for stage III colon cancer. JAMA Oncol. 2019;5(12):1710‐1717.
Caputo V, Ciardiello F, Della Corte CM, Martini G, Troiani T, Napolitano S. Diagnostic value of liquid biopsy in the era of precision medicine: 10 years of clinical evidence in cancer. Explor Target Antitumor Ther. 2023;28:102‐138.
Romanel A, Tandefelt DG, Conteduca V, et al. Plasma AR and abiraterone‐resistant prostate cancer. Sci Transl Med. 2015;7(312):312re10.
Bettegowda C, Sausen M, Leary RJ, et al. Detection of circulating tumor DNA in early‐ and late‐stage human malignancies. Sci Transl Med. 2014;6(224):224ra24.
Cristofanilli M, Budd GT, Ellis MJ, et al. Circulating tumor cells, disease progression, and survival in metastatic breast cancer. N Engl J Med. 2004;351(8):781‐791.
Siravegna G, Marsoni S, Siena S, Bardelli A. Integrating liquid biopsies into the management of cancer. Nat Rev Clin Oncol. 2017;14(9):531‐548.
de Freitas AJA, Causin RL, Varuzza MB, et al. Liquid biopsy as a tool for the diagnosis, treatment, and monitoring of breast cancer. Int J Mol Sci. 2022;23(17):9952.
Dawson SJ, Tsui DWY, Murtaza M, et al. Analysis of circulating tumor DNA to monitor metastatic breast cancer. N Engl J Med. 2013;368(13):1199‐1209.
Chaudhuri AA, Chabon JJ, Lovejoy AF, et al. Early detection of molecular residual disease in localized lung cancer by circulating tumor DNA profiling. Cancer Discov. 2017;7(12):1394‐1403.
Quandt D, Zucht HD, Amann A, et al. Implementing liquid biopsies into clinical decision making for cancer immunotherapy. Oncotarget. 2017;8(29):48507‐48520.
Schwarzenbach H, Hoon DSB, Pantel K. Cell‐free nucleic acids as biomarkers in cancer patients. Nat Rev Cancer. 2011;11(6):426‐437.
Diaz LA Jr, Williams RT, Wu J, et al. The molecular evolution of acquired resistance to targeted EGFR blockade in colorectal cancers. Nature. 2012;486(7404):537‐540.
Crowley E, Di Nicolantonio F, Loupakis F, Bardelli A. Liquid biopsy: monitoring cancer‐genetics in the blood. Nat Rev Clin Oncol. 2013;10(8):472‐484.
Vacante M, Ciuni R, Basile F, Biondi A. The liquid biopsy in the management of colorectal cancer: an overview. Biomedicine. 2020;8(9):308.
Zhang R, Zang J, Xie F, et al. Urinary molecular pathology for patients with newly diagnosed urothelial bladder cancer. J Urol. 2021;206(4):873‐884.
Li J, Han X, Yu X, et al. Clinical applications of liquid biopsy as prognostic and predictive biomarkers in hepatocellular carcinoma: circulating tumor cells and circulating tumor DNA. J Exp Clin Cancer Res. 2018;37(1):213.
Gattuso G, Crimi S, Lavoro A, et al. Liquid biopsy and circulating biomarkers for the diagnosis of precancerous and cancerous oral lesions. Noncoding RNA. 2022;8(4):60.
Egyud M, Sridhar P, Devaiah A, et al. Plasma circulating tumor DNA as a potential tool for disease monitoring in head and neck cancer. Head Neck. 2019;41(5):1351‐1358.
Hironaka S, Ueda S, Yasui H, et al. Randomized, open‐label, phase III study comparing irinotecan with paclitaxel in patients with advanced gastric cancer without severe peritoneal metastasis after failure of prior combination chemotherapy using fluoropyrimidine plus platinum: WJOG 4007 trial. J Clin Oncol. 2013;31(35):4438‐4444.
Trumet L, Weber M, Hahn A, et al. The immune checkpoint receptor CD96: a local and systemic immune modulator in oral cancer? Cancers (Basel). 2023;15(7):2126.
Reis PP, Tokar T, Goswami RS, et al. A 4‐gene signature from histologically normal surgical margins predicts local recurrence in patients with oral carcinoma: clinical validation. Sci Rep. 2020;10(1):1713.
Fogel AL, Sarin KY, Teng JMC. Genetic diseases associated with an increased risk of skin cancer development in childhood. Curr Opin Pediatr. 2017;29(4):426‐433.
Qiu CG, Shen B, Sun XQ. Significant biomarkers identification associated with cutaneous squamous cell carcinoma progression. Int J Gen Med. 2022;15:2347‐2360.
Bourova‐Flin E, Derakhshan S, Goudarzi A, et al. The combined detection of amphiregulin, cyclin A1 and DDX20/Gemin3 expression predicts aggressive forms of oral squamous cell carcinoma. Br J Cancer. 2021;125(8):1122‐1134.
Elahi M, Rakhshan V. MED15, transforming growth factor beta 1 (TGF‐β1), FcγRIII (CD16), and HNK‐1 (CD57) are prognostic biomarkers of oral squamous cell carcinoma. Sci Rep. 2020;10(1):8475.
Arora R, Haynes L, Kumar M, et al. NCBP2 and TFRC are novel prognostic biomarkers in oral squamous cell carcinoma. Cancer Gene Ther. 2023;30(5):752‐765.
Yang W, Zhou W, Zhao X, et al. Prognostic biomarkers and therapeutic targets in oral squamous cell carcinoma: a study based on cross‐database analysis. Hereditas. 2021;158(1):15.
Folch E, Costa DB, Wright J, VanderLaan PA. Lung cancer diagnosis and staging in the minimally invasive age with increasing demands for tissue analysis. Transl Lung Cancer Res. 2015;4(4):392‐403.
Gerlinger M, Rowan AJ, Horswell S, et al. Intratumor heterogeneity and branched evolution revealed by multiregion sequencing. N Engl J Med. 2012;366(10):883‐892.
Thunnissen E, Beasley MB, Borczuk AC, et al. Reproducibility of histopathological subtypes and invasion in pulmonary adenocarcinoma. An international interobserver study. Mod Pathol. 2012;25(12):1574‐1583.
Tan Y, Wang Z, Xu M, et al. Oral squamous cell carcinomas: state of the field and emerging directions. Int J Oral Sci. 2023;15(1):44.