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Hamidi Sofiani V, Ebrahimian Shiadeh A, Tabarraei A, Nikoo HR, Sadeghi F, Kamrani G, Yahyapour Y, Moradi A. Association of G12D mutation in the KRAS gene with HPV and EBV in gastrointestinal cancer tissues. J Int Med Res 2024; 52:3000605241302302. [PMID: 39673361 PMCID: PMC11645758 DOI: 10.1177/03000605241302302] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/29/2024] [Accepted: 11/07/2024] [Indexed: 12/16/2024] Open
Abstract
OBJECTIVE This study aimed to explore the potential relationship between viral infections and gastrointestinal (GI) malignancies, focusing on the presence of KRAS G12D mutations. Specifically, we investigated the association of viral agents, including human papillomavirus (HPV) and Epstein-Barr virus (EBV), with KRAS G12D mutations in GI cancers to better understand their combined role in cancer development. METHODS This cross-sectional study comprised 92 patients diagnosed with GI cancer and 100 healthy individuals in the control group. All samples were examined to detect the KRAS G12D gene mutation and the existence of HPV and EBV using real-time polymerase chain reaction assays. RESULTS HPV and EBV DNA were detected in 5.4% and 51.4% of gastric cancer samples and in 7.3% and 49.1% of colorectal cancer samples, respectively. Analysis of KRAS G12D in plasma samples revealed heterozygous mutations in 54% of patients with gastric cancer and 35% of patients with colorectal tumors. Among EBV-positive colorectal cancer samples, 1.8% were wild-type, while 47.2% exhibited heterozygous mutations. Among HPV-positive colorectal cancer patients, 1.8% exhibited wild-type KRAS, 5.4% had heterozygous mutations, and 3.2% had homozygous mutations. CONCLUSION This study detected a significant correlation between the presence of viral agents and KRAS G12D mutations.
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Affiliation(s)
- Vahideh Hamidi Sofiani
- Department of Microbiology, Faculty of Medicine, Golestan University of Medical Sciences, Gorgan, Iran
| | - Arefeh Ebrahimian Shiadeh
- Department of Microbiology, Faculty of Medicine, Golestan University of Medical Sciences, Gorgan, Iran
| | - Alijan Tabarraei
- Department of Microbiology, Faculty of Medicine, Golestan University of Medical Sciences, Gorgan, Iran
| | - Hadi Razavi Nikoo
- Department of Microbiology, Faculty of Medicine, Golestan University of Medical Sciences, Gorgan, Iran
| | - Farzin Sadeghi
- Department of Medical Microbiology, Faculty of Medicine, Babol University of Medical Sciences, Babol, Iran
| | - Ghodsieh Kamrani
- Department of Pathology, School of Medicine, Faculty of Medicine and Clinical Research Development Center, Babol University of Medical Sciences, Babol, Iran
| | - Yousef Yahyapour
- Department of Medical Microbiology, Faculty of Medicine, Babol University of Medical Sciences, Babol, Iran
| | - Abdolvahab Moradi
- Department of Microbiology, Faculty of Medicine, Golestan University of Medical Sciences, Gorgan, Iran
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Caputo V, Ciardiello F, Corte CMD, Martini G, Troiani T, Napolitano S. Diagnostic value of liquid biopsy in the era of precision medicine: 10 years of clinical evidence in cancer. EXPLORATION OF TARGETED ANTI-TUMOR THERAPY 2023; 4:102-138. [PMID: 36937316 PMCID: PMC10017193 DOI: 10.37349/etat.2023.00125] [Citation(s) in RCA: 22] [Impact Index Per Article: 11.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/26/2022] [Accepted: 11/13/2022] [Indexed: 03/06/2023] Open
Abstract
Liquid biopsy is a diagnostic repeatable test, which in last years has emerged as a powerful tool for profiling cancer genomes in real-time with minimal invasiveness and tailoring oncological decision-making. It analyzes different blood-circulating biomarkers and circulating tumor DNA (ctDNA) is the preferred one. Nevertheless, tissue biopsy remains the gold standard for molecular evaluation of solid tumors whereas liquid biopsy is a complementary tool in many different clinical settings, such as treatment selection, monitoring treatment response, cancer clonal evolution, prognostic evaluation, as well as the detection of early disease and minimal residual disease (MRD). A wide number of technologies have been developed with the aim of increasing their sensitivity and specificity with acceptable costs. Moreover, several preclinical and clinical studies have been conducted to better understand liquid biopsy clinical utility. Anyway, several issues are still a limitation of its use such as false positive and negative results, results interpretation, and standardization of the panel tests. Although there has been rapid development of the research in these fields and recent advances in the clinical setting, many clinical trials and studies are still needed to make liquid biopsy an instrument of clinical routine. This review provides an overview of the current and future clinical applications and opening questions of liquid biopsy in different oncological settings, with particular attention to ctDNA liquid biopsy.
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Affiliation(s)
- Vincenza Caputo
- Medical Oncology, Department of Precision Medicine, University of Campania “Luigi Vanvitelli”, 80131 Napoli, Italy
| | - Fortunato Ciardiello
- Medical Oncology, Department of Precision Medicine, University of Campania “Luigi Vanvitelli”, 80131 Napoli, Italy
| | - Carminia Maria Della Corte
- Medical Oncology, Department of Precision Medicine, University of Campania “Luigi Vanvitelli”, 80131 Napoli, Italy
| | - Giulia Martini
- Medical Oncology, Department of Precision Medicine, University of Campania “Luigi Vanvitelli”, 80131 Napoli, Italy
| | - Teresa Troiani
- Medical Oncology, Department of Precision Medicine, University of Campania “Luigi Vanvitelli”, 80131 Napoli, Italy
| | - Stefania Napolitano
- Medical Oncology, Department of Precision Medicine, University of Campania “Luigi Vanvitelli”, 80131 Napoli, Italy
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Haselmann V, Hedtke M, Neumaier M. Liquid Profiling for Cancer Patient Stratification in Precision Medicine—Current Status and Challenges for Successful Implementation in Standard Care. Diagnostics (Basel) 2022; 12:diagnostics12030748. [PMID: 35328301 PMCID: PMC8947441 DOI: 10.3390/diagnostics12030748] [Citation(s) in RCA: 4] [Impact Index Per Article: 1.3] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/21/2022] [Revised: 03/09/2022] [Accepted: 03/11/2022] [Indexed: 12/13/2022] Open
Abstract
Circulating tumor DNA (ctDNA), accurately described by the term liquid profiling (LP), enables real-time assessment of the tumor mutational profile as a minimally invasive test and has therefore rapidly gained traction, particular for the management of cancer patients. By LP, tumor-specific genetic alterations can be determined as part of companion diagnostics to guide selection of appropriate targeted therapeutics. Because LP facilitates longitudinal monitoring of cancer patients, it can be used to detect acquired resistant mechanisms or as a personalized biomarker for earlier detection of disease recurrence, among other applications. However, LP is not yet integrated into routine care to the extent that might be expected. This is due to the lack of harmonization and standardization of preanalytical and analytical workflows, the lack of proper quality controls, limited evidence of its clinical utility, heterogeneous study results, the uncertainty of clinicians regarding the value and appropriate indications for LP and its interpretation, and finally, the lack of reimbursement for most LP tests. In this review, the value proposition of LP for cancer patient management and treatment optimization, the current status of implementation in standard care, and the main challenges that need to be overcome are discussed in detail.
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Pei B, Zhang Z, Sun J, Qi X, Cui Q, de Yan Y, Wang X, Yang M, Song C, Yin L, Wu J, Geng Z, Wang YB, Lu Y. Functionalized Ferroferric Oxide Nanomagnetic Beads for Extraction of Nucleic Acid and Its Application in Early Screening of Colorectal Cancer. JOURNAL OF HEALTHCARE ENGINEERING 2021; 2021:5230666. [PMID: 34900193 PMCID: PMC8654521 DOI: 10.1155/2021/5230666] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Subscribe] [Scholar Register] [Received: 08/06/2021] [Revised: 08/31/2021] [Accepted: 10/11/2021] [Indexed: 11/17/2022]
Abstract
Early screening is an important way to reduce the incidence and mortality of colorectal cancer (CRC). Fecal DNA testing stands out among many screening methods due to its high sensitivity. However, at this stage, researchers have not found a high-efficiency method for fecal DNA extraction. To this end, this work carried out a new round of exploration. Here, this experiment synthesized a kind of nanomagnetic beads (NH2-SiO2@Fe3O4) with good stability for nucleic acid extraction. A comparative study with the centrifugal adsorption column method revealed the significant advantages of the magnetic bead method in extracting fecal DNA. The DNA extracted by the magnetic bead method is of high purity, can also achieve high-throughput tests, and is more suitable for polymerase chain reaction detection, greatly simplifying the stool DNA detection process and providing a basis for the widespread promotion of early screening.
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Affiliation(s)
- Bing Pei
- Department of Clinical Laboratory, The Affiliated Suqian First People's Hospital of Nanjing Medical University, Suqian 223800, Jiangsu, China
| | - Zhenjiang Zhang
- Department of Infectious Diseases, The Affiliated Suqian First People's Hospital of Nanjing Medical University, Suqian 223800, Jiangsu, China
| | - Jian Sun
- Department of Clinical Laboratory, The Affiliated Suqian First People's Hospital of Nanjing Medical University, Suqian 223800, Jiangsu, China
| | - xiaoYan Qi
- Department of Clinical Laboratory, The Affiliated Suqian First People's Hospital of Nanjing Medical University, Suqian 223800, Jiangsu, China
| | - Qian Cui
- Department of Clinical Laboratory, The Affiliated Suqian First People's Hospital of Nanjing Medical University, Suqian 223800, Jiangsu, China
| | - you de Yan
- Department of Infectious Diseases, The Affiliated Suqian First People's Hospital of Nanjing Medical University, Suqian 223800, Jiangsu, China
| | - xiaoYan Wang
- Department of Gastroenterology, The Affiliated Suqian First People's Hospital of Nanjing Medical University, Suqian 223800, Jiangsu, China
| | - Miaomiao Yang
- Department of Clinical Laboratory, The Affiliated Suqian First People's Hospital of Nanjing Medical University, Suqian 223800, Jiangsu, China
| | - Chunjie Song
- Department of Neurology, The Affiliated Suqian First People's Hospital of Nanjing Medical University, Suqian 223800, Jiangsu, China
| | - Lingsi Yin
- Department of Clinical Laboratory, The Affiliated Suqian First People's Hospital of Nanjing Medical University, Suqian 223800, Jiangsu, China
| | - Juan Wu
- Department of Clinical Laboratory, The Affiliated Suqian First People's Hospital of Nanjing Medical University, Suqian 223800, Jiangsu, China
| | - Zhixin Geng
- Department of Clinical Laboratory, The Affiliated Suqian First People's Hospital of Nanjing Medical University, Suqian 223800, Jiangsu, China
| | - Yue Bang Wang
- Department of Clinical Laboratory, The Affiliated Suqian First People's Hospital of Nanjing Medical University, Suqian 223800, Jiangsu, China
| | - Yi Lu
- Department of Clinical Laboratory, The Affiliated Suqian First People's Hospital of Nanjing Medical University, Suqian 223800, Jiangsu, China
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Yalchin M, Baker AM, Graham TA, Hart A. Predicting Colorectal Cancer Occurrence in IBD. Cancers (Basel) 2021; 13:2908. [PMID: 34200768 PMCID: PMC8230430 DOI: 10.3390/cancers13122908] [Citation(s) in RCA: 18] [Impact Index Per Article: 4.5] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/12/2021] [Revised: 05/27/2021] [Accepted: 06/01/2021] [Indexed: 12/13/2022] Open
Abstract
Patients with colonic inflammatory bowel disease (IBD) are at an increased risk of developing colorectal cancer (CRC), and are therefore enrolled into a surveillance programme aimed at detecting dysplasia or early cancer. Current surveillance programmes are guided by clinical, endoscopic or histological predictors of colitis-associated CRC (CA-CRC). We have seen great progress in our understanding of these predictors of disease progression, and advances in endoscopic technique and management, along with improved medical care, has been mirrored by the falling incidence of CA-CRC over the last 50 years. However, more could be done to improve our molecular understanding of CA-CRC progression and enable better risk stratification for patients with IBD. This review summarises the known risk factors associated with CA-CRC and explores the molecular landscape that has the potential to complement and optimise the existing IBD surveillance programme.
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Affiliation(s)
- Mehmet Yalchin
- Inflammatory Bowel Disease Department, St. Mark’s Hospital, Watford R.d., Harrow HA1 3UJ, UK
- Centre for Genomics and Computational Biology, Barts Cancer Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, Charterhouse S.q., London EC1M 6BQ, UK; (A.-M.B.); (T.A.G.)
| | - Ann-Marie Baker
- Centre for Genomics and Computational Biology, Barts Cancer Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, Charterhouse S.q., London EC1M 6BQ, UK; (A.-M.B.); (T.A.G.)
| | - Trevor A. Graham
- Centre for Genomics and Computational Biology, Barts Cancer Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, Charterhouse S.q., London EC1M 6BQ, UK; (A.-M.B.); (T.A.G.)
| | - Ailsa Hart
- Inflammatory Bowel Disease Department, St. Mark’s Hospital, Watford R.d., Harrow HA1 3UJ, UK
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Sayhan S, Kahraman DS. Pathologic Features of Colorectal Carcinomas. COLON POLYPS AND COLORECTAL CANCER 2021:455-480. [DOI: 10.1007/978-3-030-57273-0_23] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 01/03/2025]
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Wang R, Zhao A, Cao N, Li Z, Zhang G, Liu F. The value of circulation tumor DNA in predicting postoperative recurrence of colorectal cancer: a meta-analysis. Int J Colorectal Dis 2020; 35:1463-1475. [PMID: 32572601 DOI: 10.1007/s00384-020-03667-y] [Citation(s) in RCA: 7] [Impact Index Per Article: 1.4] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Accepted: 06/10/2020] [Indexed: 02/04/2023]
Abstract
PURPOSE Surgical resection is the primary treatment for patients with nonmetastatic colorectal cancer (CRC). However, even after undergoing radical resection procedure, 30-50% of patients will still experience relapse. Circulation tumor DNA (ctDNA), deriving from tumor cells, is shed into the bloodstream and is a potential predictive biomarker of recurrence in CRC. This meta-analysis was performed to identify the clinical value of ctDNA in predicting the recurrence of CRC patients in post-operative. METHODS PubMed, Embase, The Cochrane Library, and Web of Science were comprehensively searched to identify the studies that reported the function of ctDNA for predicting recurrence in CRC patients. The eligible studies were pooled to calculate the relative risk (RR) of recurrence in ctDNA positive and negative groups. The data of ctDNA on recurrence-free survival (RFS) were extracted and computed in hazard ratio (HR) and 95% confident interval (CI). Subgroup analyses were also performed. RESULTS A total of 7 studies including 424 patients were included and analyzed in our meta-analysis. The results showed that pooled RR was 4.65 (95%CI: 2.68-8.08, P < 0.05), indicating ctDNA positive could predict the recurrence of CRC after curative surgical. The pooled HR demonstrated strong connection between ctDNA positive and RFS in patients with CRC (HR = 9.14, 95%CI: 4.02-20.75, P < 0.05). CONCLUSION Evidence from the meta-analysis suggested that ctDNA is a promising potential biomarker for predicting postoperative recurrence of CRC. Given the inherent limitations of this study, we look forward to more well-designed clinical studies to validate and update this analysis in the future.
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Affiliation(s)
- Rui Wang
- LongHua Hospital, Shanghai University of Traditional Chinese Medicine, Shanghai, 200032, China
| | - Aiguang Zhao
- LongHua Hospital, Shanghai University of Traditional Chinese Medicine, Shanghai, 200032, China.
| | - Nida Cao
- LongHua Hospital, Shanghai University of Traditional Chinese Medicine, Shanghai, 200032, China
| | - Zhaoyan Li
- LongHua Hospital, Shanghai University of Traditional Chinese Medicine, Shanghai, 200032, China
| | - Guangtao Zhang
- LongHua Hospital, Shanghai University of Traditional Chinese Medicine, Shanghai, 200032, China
| | - Feng Liu
- LongHua Hospital, Shanghai University of Traditional Chinese Medicine, Shanghai, 200032, China
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Nguyen HT, Tran DH, Ngo QD, Pham HAT, Tran TT, Tran VU, Pham TVN, Le TK, Le NAT, Nguyen NM, Vo BT, Nguyen LT, Nguyen TCV, Bui QTN, Nguyen HN, Luong BA, Le LGH, Do DM, Do TTT, Hoang AV, Dinh KT, Phan MD, Tran LS, Giang H, Nguyen HN. Evaluation of a Liquid Biopsy Protocol using Ultra-Deep Massive Parallel Sequencing for Detecting and Quantifying Circulation Tumor DNA in Colorectal Cancer Patients. Cancer Invest 2020; 38:85-93. [DOI: 10.1080/07357907.2020.1713350] [Citation(s) in RCA: 5] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 02/07/2023]
Affiliation(s)
| | - Duc Huy Tran
- University Medical Center, Ho Chi Minh City, Vietnam
| | - Quoc Dat Ngo
- University of Medicine and Pharmacy, Ho Chi Minh City, Vietnam
| | - Hong-Anh Thi Pham
- Gene Solutions, Ho Chi Minh City, Vietnam
- Medical Genetics Institute, Ho Chi Minh City, Vietnam
| | - Thanh-Truong Tran
- Gene Solutions, Ho Chi Minh City, Vietnam
- Medical Genetics Institute, Ho Chi Minh City, Vietnam
| | - Vu-Uyen Tran
- Gene Solutions, Ho Chi Minh City, Vietnam
- Medical Genetics Institute, Ho Chi Minh City, Vietnam
| | | | - Trung Kien Le
- University Medical Center, Ho Chi Minh City, Vietnam
| | | | - Ngoc Mai Nguyen
- Gene Solutions, Ho Chi Minh City, Vietnam
- Medical Genetics Institute, Ho Chi Minh City, Vietnam
| | - Binh Thanh Vo
- Gene Solutions, Ho Chi Minh City, Vietnam
- Medical Genetics Institute, Ho Chi Minh City, Vietnam
| | - Luan Thanh Nguyen
- Gene Solutions, Ho Chi Minh City, Vietnam
- Medical Genetics Institute, Ho Chi Minh City, Vietnam
| | - Thien-Chi Van Nguyen
- Gene Solutions, Ho Chi Minh City, Vietnam
- Medical Genetics Institute, Ho Chi Minh City, Vietnam
| | - Quynh Tram Nguyen Bui
- Gene Solutions, Ho Chi Minh City, Vietnam
- Medical Genetics Institute, Ho Chi Minh City, Vietnam
| | - Huu-Nguyen Nguyen
- Gene Solutions, Ho Chi Minh City, Vietnam
- Medical Genetics Institute, Ho Chi Minh City, Vietnam
| | - Bac An Luong
- University of Medicine and Pharmacy, Ho Chi Minh City, Vietnam
| | | | - Duc Minh Do
- University of Medicine and Pharmacy, Ho Chi Minh City, Vietnam
| | - Thanh-Thuy Thi Do
- University of Medicine and Pharmacy, Ho Chi Minh City, Vietnam
- Medical Genetics Institute, Ho Chi Minh City, Vietnam
| | - Anh Vu Hoang
- University of Medicine and Pharmacy, Ho Chi Minh City, Vietnam
| | | | - Minh-Duy Phan
- Gene Solutions, Ho Chi Minh City, Vietnam
- School of Chemistry and Molecular Biosciences, University of Queensland, Brisbane, Australia
| | | | - Hoa Giang
- Gene Solutions, Ho Chi Minh City, Vietnam
- Medical Genetics Institute, Ho Chi Minh City, Vietnam
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Yu Y, Yang L, He C, Tai S, Zhu L, Ma C, Yang T, Cheng F, Sun X, Cui R, Wang S, Wang D. An experimental study on riboflavin photosensitization treatment for inactivation of circulating HCT116 tumor cells. JOURNAL OF PHOTOCHEMISTRY AND PHOTOBIOLOGY B-BIOLOGY 2019; 196:111496. [DOI: 10.1016/j.jphotobiol.2019.04.005] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Track Full Text] [Subscribe] [Scholar Register] [Received: 01/09/2019] [Revised: 04/01/2019] [Accepted: 04/15/2019] [Indexed: 01/18/2023]
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Chand M, Keller DS, Mirnezami R, Bullock M, Bhangu A, Moran B, Tekkis PP, Brown G, Mirnezami A, Berho M. Novel biomarkers for patient stratification in colorectal cancer: A review of definitions, emerging concepts, and data. World J Gastrointest Oncol 2018; 10:145-158. [PMID: 30079141 PMCID: PMC6068858 DOI: 10.4251/wjgo.v10.i7.145] [Citation(s) in RCA: 27] [Impact Index Per Article: 3.9] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 03/08/2018] [Revised: 04/22/2018] [Accepted: 06/08/2018] [Indexed: 02/05/2023] Open
Abstract
Colorectal cancer (CRC) treatment has become more personalised, incorporating a combination of the individual patient risk assessment, gene testing, and chemotherapy with surgery for optimal care. The improvement of staging with high-resolution imaging has allowed more selective treatments, optimising survival outcomes. The next step is to identify biomarkers that can inform clinicians of expected prognosis and offer the most beneficial treatment, while reducing unnecessary morbidity for the patient. The search for biomarkers in CRC has been of significant interest, with questions remaining on their impact and applicability. The study of biomarkers can be broadly divided into metabolic, molecular, microRNA, epithelial-to-mesenchymal-transition (EMT), and imaging classes. Although numerous molecules have claimed to impact prognosis and treatment, their clinical application has been limited. Furthermore, routine testing of prognostic markers with no demonstrable influence on response to treatment is a questionable practice, as it increases cost and can adversely affect expectations of treatment. In this review we focus on recent developments and emerging biomarkers with potential utility for clinical translation in CRC. We examine and critically appraise novel imaging and molecular-based approaches; evaluate the promising array of microRNAs, analyze metabolic profiles, and highlight key findings for biomarker potential in the EMT pathway.
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Affiliation(s)
- Manish Chand
- GENIE Centre, University College London, London W1W 7TS, United Kingdom
| | - Deborah S Keller
- Department of Surgery, Columbia University Medical Centre, New York, NY 10032, United States
| | - Reza Mirnezami
- Department of Surgery, Imperial College London, London SW7 2AZ, United Kingdom
| | - Marc Bullock
- Department of Surgery, University of Southampton, Southampton SO17 1BJ, United Kingdom
| | - Aneel Bhangu
- Department of Surgery, University of Birmingham, Birmingham B15 2QU, United Kingdom
| | - Brendan Moran
- Department of Colorectal Surgery, North Hampshire Hospital, Basingstoke RG24 7AL, United Kingdom
| | - Paris P Tekkis
- Department of Colorectal Surgery, Royal Marsden Hospital and Imperial College London, London SW3 6JJ, United Kingdom
| | - Gina Brown
- Department of Radiology, Royal Marsden Hospital and Imperial College London, London SW3 6JJ, United Kingdom
| | - Alexander Mirnezami
- Department of Surgical Oncology, University of Southampton and NIHR, Southampton SO17 1BJ, United Kingdom
| | - Mariana Berho
- Department of Pathology, Cleveland Clinic Florida, Weston, FL 33331, United States
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Kastrisiou M, Zarkavelis G, Kampletsas E, Panopoulou E, Goussia A, Nasioulas G, Papadopoulou E, Tsaousi C, Pentheroudakis G. Clonal evolution of colorectal cancer in a patient with serially resected metastases and liquid biopsies: a case report and discussion of the literature. ESMO Open 2018; 3:e000329. [PMID: 29942663 PMCID: PMC6012565 DOI: 10.1136/esmoopen-2018-000329] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.1] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/07/2018] [Revised: 04/02/2018] [Accepted: 04/03/2018] [Indexed: 01/13/2023] Open
Abstract
Background Metastatic colorectal cancer represents a striking example of clonal heterogeneity and tumour evolution, which generates acquired resistance to therapy. Once hard to perform, the study of clonal heterogeneity is now significantly aided by the use of liquid biopsies. Method We herein report a case of a patient with colorectal cancer and serial development of multiple metastases which were all resected and genotyped. A rare point mutation was identified in the primary tumour (but not in any of the organ metastatic sites), as well as in the first and the last out of three consecutive liquid biopsies. The review of the literature offered some insight in the evolution of the patient’s tumour and general directions on how to interpret liquid biopsy results. Conclusions This patient case emphasises the need for large prospective studies designed to bridge liquid biopsy data with useful clinical endpoints, in order to optimally integrate this revolutionary tool in everyday practice.
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Affiliation(s)
- Myrto Kastrisiou
- Society for Study of Clonal Heterogeneity of Neoplasia (EMEKEN), Ioannina, Greece.,Medical Oncology, Medical School, University of Ioannina, Ioannina, Greece
| | - George Zarkavelis
- Society for Study of Clonal Heterogeneity of Neoplasia (EMEKEN), Ioannina, Greece.,Medical Oncology, Medical School, University of Ioannina, Ioannina, Greece
| | | | - Eleni Panopoulou
- Department of Pathology, Medical School, University of Ioannina, Ioannina, Greece
| | - Anna Goussia
- Department of Pathology, Medical School, University of Ioannina, Ioannina, Greece
| | | | | | - Christina Tsaousi
- Haematology Laboratory, Ioannina University Hospital, Ioannina, Greece
| | - George Pentheroudakis
- Society for Study of Clonal Heterogeneity of Neoplasia (EMEKEN), Ioannina, Greece.,Medical Oncology, Medical School, University of Ioannina, Ioannina, Greece
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