New Diagnostic Methods and Liquid Biopsy in Gliomas
Mustafa Çağlar ŞAHİNa , Hakan EMMEZb
aKulu State Hospital, Clinic of Neurosurgery, Konya, Türkiye
bAnkara Güven Hospital, Clinic of Neurosurgery, Ankara, Türkiye
Şahin MÇ, Emmez H. New diagnostic meth- ods and liquid biopsy in gliomas. In: Uğur HÇ, Bayatlı E, eds. Glial Tumours: Expectations from Today-Promises of the Future. 1st ed. An- kara: Türkiye Klinikleri; 2024. p.18-23.
ABSTRACT
Gliomas represent the most frequently occurring primary malignant tumors within the central ner- vous system. Gliomas account for 30% of all primary brain tumors and 80% of malignant ones, making them the leading cause of mortality associated with primary brain tumors. Current methods used in the diagnosis and fol- low-up of glioma consist of both invasive and non-invasive tests. Research focuses on less invasive methods for diagnosing and monitoring glioma, aiming to decrease morbidity. Liquid biopsy, an analysis of cells and genetic materials from blood and body fluids, identifies tumor-related molecular characteristics. This method allows us to obtain important information such as tumor type, severity and response to treatment at the molecular level. As a minimally invasive method, liquid biopsy can better reflect tumor heterogeneity and offers the ability to con- tinuously monitor the dynamic nature of the tumor. However, it has disadvantages such as the inability to pro- vide histological diagnosis and staging, lack of standardization, and high costs. The processes of apoptosis and necrosis in cancer cells within the tumor microenvironment contribute to the release of nucleic acids into the bloodstream. Macrophages phagocytose dying cells and trigger DNA release. During this process, a significant portion of the DNA originating from the tumor may enter the blood on a daily basis. Liquid biopsy includes cir- culating tumor cells, circulating free DNA, circulating tumor DNA, extracellular microRNA, tumor-educated platelets, exosomes, and other extracellular non-coding RNAs. The capacity of liquid biopsy to examine tumor- derived materials in bodily fluids has expanded its application across various tumor types. This method offers real- time insights into tumor dynamics while delivering crucial diagnostic and prognostic data. In the case of gliomas, the use of liquid biopsy is highly promising. With the development of liquid biopsy techniques, its usage areas are also expanding. In addition to gliomas, liquid biopsy has become available for monitoring localized tumors, evaluating response to treatment, and even monitoring some benign diseases. This expanding range of applica- tions demonstrates how liquid biopsy can revolutionize oncology and other areas of medicine. The advances made in the field of liquid biopsy in recent years are opening new horizons in cancer research.
Keywords: Circulating neoplastic cells; exosomes; glioma; liquid biopsy; diagnosis
Citation
Referanslar
- Chen R, Smith-Cohn M, Cohen AL, Colman H. Glioma Subclassifications and Their Clinical Significance. Neurotherapeutics. 2017;14(2):284-97. [Crossref] [PubMed] [PMC]
- Schaff LR, Mellinghoff IK. Glioblastoma and Other Primary Brain Malignancies in Adults: A Review. 2023;329(7):574-87. [Crossref] [PubMed] [PMC]
- Jiang B, Chaichana K, Veeravagu A, Chang SD, Black KL, Patil CG. Biopsy versus resection for the management of low-grade gliomas. Cochrane Database of Systematic Reviews 2017;2017(4). [Crossref] [PubMed] [PMC]
- Zikou A, Sioka C, Alexiou GA, Fotopoulos A, Voulgaris S, Argyropoulou MI. Radiation necrosis, pseudoprogression, pseudoresponse, and tumor recurrence: Imaging challenges for the evaluation of treated gliomas. Contrast Media Mol Imaging. 2018;2018. [Crossref] [PubMed] [PMC]
- Lin P, He L, Tian N, Qi X. The evaluation of six genes combined value in glioma diagnosis and prognosis. Journal of Cancer Research and Clinical Oncology. 2023;149(13):12413-33. [Crossref] [PubMed]
- Yu P, Wang Y, Su F, Chen Y. Comparing [18F]FET PET and [18F]FDOPA PET for glioma recurrence diagnosis: a systematic review and meta-analysis. Front Oncol. 2023;13. [Crossref] [PubMed] [PMC]
- Luo J, Pan M, Mo K, Mao Y, Zou D. Emerging role of artificial intelligence in diagnosis, classification and clinical management of glioma. Semin Cancer Biol. 2023;91:110-23. [Crossref] [PubMed]
- Corcoran RB. Liquid biopsy versus tumor biopsy for clinical-trial recruitment. Nat Med. 2020;26(12):1815-6. [Crossref] [PubMed]
- Aaltonen KE, Novosadová V, Bendahl PO, Graffman C, Larsson AM, Rydén L. Molecular characterization of circulating tumor cells from patients with metastatic breast cancer reflects evolutionary changes in gene expression under the pressure of systemic therapy. Oncotarget. 2017;8(28):45544-65. [Crossref] [PubMed] [PMC]
- Hong X, Sullivan RJ, Kalinich M, Kwan TT, Giobbie-Hurder A, Pan S, et al. Molecular signatures of circulating melanoma cells for monitoring early response to immune checkpoint therapy. Proc Natl Acad Sci U S A. 2018;115(10):2467-72. [Crossref] [PubMed] [PMC]
- Shoda K, Ichikawa D, Fujita Y, Masuda K, Hiramoto H, Hamada J, vd. Monitoring the HER2 copy number status in circulating tumor DNA by droplet digital PCR in patients with gastric cancer. Gastric Cancer. 2017;20(1):126-35. [Crossref] [PubMed]
- Xie F, Li P, Gong J, Tan H, Ma J. Urinary cell-free DNA as a prognostic marker for KRAS-positive advanced-stage NSCLC. Clin Transl Oncol. 2018;20(5):591-8. [Crossref] [PubMed]
- Qi LN, Xiang BD, Wu FX, Ye JZ, Zhong JH, Wang YY, et al. Circulating Tumor Cells Undergoing EMT Provide a Metric for Diagnosis and Prognosis of Patients with Hepatocellular Carcinoma. Cancer Res. 2018;78(16):4731-44. [Crossref] [PubMed]
- Choi JJ, Reich CF, Pisetsky DS. The role of macrophages in the in vitro generation of extracellular DNA from apoptotic and necrotic cells. Immunology. 2005;115(1):55. [Crossref] [PubMed] [PMC]
- Khan MA, Vikramdeo KS, Sudan SK, Singh S, Wilhite A, Dasgupta S, et al. Platinum-resistant ovarian cancer: From drug resistance mechanisms to liquid biopsy-based biomarkers for disease management. Semin Cancer Biol. 2021; 77:99-109. [Crossref] [PubMed] [PMC]
- Zhu JW, Charkhchi P, Akbari MR. Potential clinical utility of liquid biopsies in ovarian cancer. Molecular Cancer. 2022;21(1):1-24. [Crossref] [PubMed] [PMC]
- Speicher MR, Pantel K. Tumor signatures in the blood. Nat Biotechnol. 2014;32(5):441-3. [Crossref] [PubMed]
- Praharaj PP, Bhutia SK, Nagrath S, Bitting RL, Deep G. Circulating tumor cell-derived organoids: Current challenges and promises in medical research and precision medicine. Biochim Biophys Acta Rev Cancer. 2018;1869(2):117-27. [Crossref] [PubMed] [PMC]
- Schwarzenbach H, Hoon DSB, Pantel K. Cell-free nucleic acids as biomarkers in cancer patients. Nat Rev Cancer. 2011;11(6):426-37. [Crossref] [PubMed]
- Momen-Heravi F, Getting SJ, Moschos SA. Extracellular vesicles and their nucleic acids for biomarker discovery. Pharmacol Ther. 2018;192:170-87. [Crossref] [PubMed]
- Mandel P, Metais P. Nuclear Acids In Human Blood Plasma. C R Seances Soc Biol Fil. 1948;142(3-4):241-3. [PubMed]
- Stroun M, Anker P, Maurice P, Lyautey J, Lederrey C, Beljanski M. Neoplastic characteristics of the DNA found in the plasma of cancer patients. Oncology. 1989;46(5):318-22. [Crossref] [PubMed]
- Vasioukhin V, Anker P, Maurice P, Lyautey J, Lederrey C, Stroun M. Point mutations of the N-ras gene in the blood plasma DNA of patients with myelodysplastic syndrome or acute myelogenous leukaemia. Br J Haematol. 1994 ;86(4):774-9. [Crossref] [PubMed]
- Nawroz H, Koch W, Anker P, Stroun M, Sidransky D. Microsatellite alterations in serum DNA of head and neck cancer patients. Nat Med. 1996;2(9):1035-7. [Crossref] [PubMed]
- Mori T, O'Day SJ, Umetani N, Martinez SR, Kitago M, Koyanagi K, et al. Predictive Utility of Circulating Methylated DNA in Serum of Melanoma Patients Receiving Biochemotherapy. J Clin Oncol. 2005;23(36):9351. [Crossref] [PubMed] [PMC]
- Eccles SA, Welch DR. Metastasis: recent discoveries and novel treatment strategies. Lancet. 2007;369(9574):1742-57. [Crossref] [PubMed]
- Alix-Panabières C, Riethdorf S, Pantel K. Circulating tumor cells and bone marrow micrometastasis. Clin Cancer Res. 2008;14(16):5013-21. [Crossref] [PubMed]
- Crowley E, Di Nicolantonio F, Loupakis F, Bardelli A. Liquid biopsy: monitoring cancer-genetics in the blood. Nat Rev Clin Oncol. 2013;10(8):472-84. [Crossref] [PubMed]
- Elshimali YI, Khaddour H, Sarkissyan M, Wu Y, Vadgama JV. The Clinical Utilization of Circulating Cell Free DNA (CCFDNA) in Blood of Cancer Patients. Int J Mol Sci. 2013;14(9):18925. [Crossref] [PubMed] [PMC]
- Gingras I, Salgado R, Ignatiadis M. Liquid biopsy: will it be the "magic tool" for monitoring response of solid tumors to anticancer therapies? Curr Opin Oncol. 2015 ;27(6):560-7. [Crossref] [PubMed]
- Qin Z, Ljubimov VA, Zhou C, Tong Y, Liang J. Cell-free circulating tumor DNA in cancer. Chin J Cancer. 2016;35(5). [Crossref] [PubMed] [PMC]
- Bennett CW, Berchem G, Kim YJ, El-Khoury V. Cell-free DNA and next-generation sequencing in the service of personalized medicine for lung cancer. Oncotarget. 2016;7(43):71013-35. [Crossref] [PubMed] [PMC]
- Caswell DR, Swanton C. The role of tumour heterogeneity and clonal cooperativity in metastasis, immune evasion and clinical outcome. BMC Med. 2017;15(1). [Crossref] [PubMed] [PMC]
- Bernard V, Kim DU, San Lucas FA, Castillo J, Allenson K, Mulu FC, et al. Circulating Nucleic Acids Are Associated With Outcomes of Patients With Pancreatic Cancer. Gastroenterology. 2019;156(1):108-18.e4. [Crossref] [PubMed] [PMC]
- Cui Y, Kim HS, Cho ES, Han D, Park JA, Park JY, et al. Longitudinal detection of somatic mutations in saliva and plasma for the surveillance of oral squamous cell carcinomas. PLoS One. 2021;16(9). [Crossref] [PubMed] [PMC]
- Jones J, Nguyen H, Drummond K, Morokoff A. Circulating Biomarkers for Glioma: A Review. Neurosurgery. 2021;88(3):E221-30. [Crossref] [PubMed]
- Li D, Bonner ER, Wierzbicki K, Panditharatna E, Huang T, Lulla R, et al. Standardization of the liquid biopsy for pediatric diffuse midline glioma using ddPCR. Sci Rep. 2021;11(1). [Crossref] [PubMed] [PMC]
- Panditharatna E, Kilburn LB, Aboian MS, Kambhampati M, Gordish-Dressman H, Magge SN, et al. Clinically Relevant and Minimally Invasive Tumor Surveillance of Pediatric Diffuse Midline Gliomas Using Patient-Derived Liquid Biopsy. Clin Cancer Res. 2018;24(23):5850-9. [Crossref] [PubMed] [PMC]
- Faria G, Silva E, Da Fonseca C, Quirico-Santos T. Circulating Cell-Free DNA as a Prognostic and Molecular Marker for Patients with Brain Tumors under Perillyl Alcohol-Based Therapy. Int J Mol Sci. 2018;19(6). [Crossref] [PubMed] [PMC]
- Nassiri F, Chakravarthy A, Feng S, Shen SY, Nejad R, Zuccato JA, et al. Detection and discrimination of intracranial tumors using plasma cell-free DNA methylomes. Nat Med. 2020;26(7):1044-7. [Crossref] [PubMed] [PMC]
- Sabedot TS, Malta TM, Snyder J, Nelson K, Wells M, Decarvalho AC, et al. A serum-based DNA methylation assay provides accurate detection of glioma. Neuro Oncol. 2021;23(9):1494-508. [Crossref] [PubMed] [PMC]
- Martínez-Ricarte F, Mayor R, Martínez-Sáez E, Rubio-Pérez C, Pineda E, Cordero E, et al. Molecular Diagnosis of Diffuse Gliomas through Sequencing of Cell-Free Circulating Tumor DNA from Cerebrospinal Fluid. Clin Cancer Res. 2018;24(12):2812-9. [Crossref] [PubMed]
- Fujioka Y, Hata N, Akagi Y, Kuga D, Hatae R, Sangatsuda Y, et al. Molecular diagnosis of diffuse glioma using a chip-based digital PCR system to analyze IDH, TERT, and H3 mutations in the cerebrospinal fluid. J Neurooncol. 2021;152(1):47-54. [Crossref] [PubMed] [PMC]
- Husain A, Mishra S, Hadi R, Sahu A, Kumari S, Rastogi M, et al. Dynamics of cell-free DNA in predicting response in adult diffuse glioma on chemoradiotherapy. Cancer Genet. 2022;268-269:55-63. [Crossref] [PubMed]
- Palande V, Siegal T, Detroja R, Gorohovski A, Glass R, Flueh C, et al. Detection of gene mutations and gene-gene fusions in circulating cell-free DNA of glioblastoma patients: an avenue for clinically relevant diagnostic analysis. Mol Oncol. 2022;16(10):2098-114. [Crossref] [PubMed] [PMC]
- Dong L, Li Y, Han C, Wang X, She L, Zhang H. miRNA microarray reveals specific expression in the peripheral blood of glioblastoma patients. Int J Oncol. 2014;45(2):746-56. [Crossref] [PubMed]
- Wang Q, Li P, Li A, Jiang W, Wang H, Wang J, et al. Plasma specific miRNAs as predictive biomarkers for diagnosis and prognosis of glioma. J Exp Clin Cancer Res. 2012 ;31(1). [Crossref] [PubMed] [PMC]
- Sullivan JP, Nahed BV, Madden MW, Oliveira SM, Springer S, Bhere D, et al. Brain tumor cells in circulation are enriched for mesenchymal gene expression. Cancer Discov. 2014;4(11):1299-309. [Crossref] [PubMed] [PMC]
- Müller C, Holtschmidt J, Auer M, Heitzer E, Lamszus K, Schulte A, et al. Hematogenous dissemination of glioblastoma multiforme. Sci Transl Med. 2014;6(247). [Crossref] [PubMed]
- Gao F, Cui Y, Jiang H, Sui D, Wang Y, Jiang Z, et al. Circulating tumor cell is a common property of brain glioma and promotes the monitoring system. Oncotarget. 2016 ;7(44):71330-40. [Crossref] [PubMed] [PMC]
- MacArthur KM, Kao GD, Chandrasekaran S, Alonso-Basanta M, Chapman C, Lustig RA, et al. Detection of brain tumor cells in the peripheral blood by a telomerase promoter-based assay. Cancer Res. 2014;74(8):2152-9. [Crossref] [PubMed] [PMC]
- Kichkailo AS, Narodov AA, Komarova MA, Zamay TN, Zamay GS, Kolovskaya OS, et al. Development of DNA aptamers for visualization of glial brain tumors and detection of circulating tumor cells. Mol Ther Nucleic Acids. 2023;32:267-88. [PubMed]
- Gourlay J, Morokoff AP, Luwor RB, Zhu HJ, Kaye AH, Stylli SS. The emergent role of exosomes in glioma. J Clin Neurosci. 2017;35:13-23. [Crossref] [PubMed]
- Klekner Á, Szivos L, Virga J, Árkosy P, Bognár L, Birkó Z, et al. Significance of liquid biopsy in glioblastoma - A review. J Biotechnol. 2019;298:82-7. [Crossref] [PubMed]
- Skouras P, Gargalionis AN, Piperi C. Exosomes as Novel Diagnostic Biomarkers and Therapeutic Tools in Gliomas. Int J Mol Sci. 2023;24(12). [Crossref] [PubMed] [PMC]
- Quezada C, Torres Á, Niechi I, Uribe D, Contreras-Duarte S, Toledo F, et al. Role of extracellular vesicles in glioma progression. Mol Aspects Med. 2018;60:38-51. [Crossref] [PubMed]
- Hagiwara K, Ochiya T, Kosaka N. A paradigm shift for extracellular vesicles as small RNA carriers: from cellular waste elimination to therapeutic applications. Drug Deliv Transl Res. 2014;4(1):31-7. [Crossref] [PubMed] [PMC]