Download PDF
CC BY-NC-ND 4.0 · South Asian J Cancer 2024; 13(04): 246-250
DOI: 10.1055/s-0044-1801753
Review Article
Diagnosis

Liquid Biopsy and Colorectal Cancer

Shyam Aggarwal
1   Department of Medical Oncology, Sir Ganga Ram Hospital, New Delhi, India
,
Anuradha Chougle
2   Department of Molecular Biology, Maharashtra University of Health Sciences, Nashik, Maharashtra, India
,
Vineet Talwar
3   Department of Medical Oncology, Rajiv Gandhi Cancer Institute, New Delhi, India
,
Pragya Shukla
4   Department of Radiation Oncology, Delhi State Cancer Institute, New Delhi, India
,
Nitesh Rohtagi
5   Department of Medical Oncology, Fortis Memorial Research Institute, New Delhi, India
,
Amit Verma
6   Department of Molecular Oncology, Dr AV Institute of Personalized Medicine, New Delhi, India
,
Rajesh Pasricha
7   Department of Radiation Oncology, All India Institute of Medical Sciences (AIIMS) Bhopal, Bhopal, Madhya Pradesh, India
,
Bhawna Sirohi
8   Department of Medical Oncology, Balco Medical Center, Raipur, Chhattisgarh, India
,
Chaturbhuj Agarwal
9   Department of Medical Oncology, Bahrain specialist hospital, Juffair, Bahrain
,
Sunil Pasricha
10   Department of Pathology, Rajiv Gandhi Cancer Institute (RGCI), New Delhi, India
,
R. K. Choudhary
11   Department of Medical Oncology, Metro Hospital and Cancer Center, New Delhi, India
,
Gautam Goyal
12   Department of Medical Oncology, Max Superspeciality Hospital, Chandigarh, Punjab, India
› Author Affiliations
› Further Information
Also available at
   Permissions and Reprints

Abstract

The majority of patients with colorectal cancer (CRC) will ultimately develop metastasis. Identifying specific molecular characteristics in them can help optimize their management in a personalized manner. This requires a noninvasive method for frequent sampling. Liquid biopsy provides such an option that is gaining increasing importance in most tumor types. We present the current status of liquid biopsy in CRC with respect to early diagnosis in high-risk population, screening, follow-up of patients on treatment, early identification of progression, and value of serial sampling. We will also discuss the potential for liquid biopsy to help identify changes related to microbiota, specific tumor-causing bacteria, and testing for ribonucleic acid associated with exosomes.

Keywords

molecular - driver mutations - monitoring - minimal residual disease - biomarker


Publication History

Article published online:
02 January 2025

© 2025. MedIntel Services Pvt Ltd. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)

Thieme Medical and Scientific Publishers Pvt. Ltd.
A-12, 2nd Floor, Sector 2, Noida-201301 UP, India

 

  • References

  • 1 Siegel RL, Miller KD, Goding Sauer A. et al. Colorectal cancer statistics, 2020. CA Cancer J Clin 2020; 70 (03) 145-164
    CrossrefPubMedSearch in Google Scholar
  • 2 Sharma A, Sharma A, Sharma V. et al. Long-term survivors of metastatic colorectal cancer: a tertiary care centre experience. South Asian J Cancer 2021; 10 (02) 87-91
    Thieme ConnectPubMedSearch in Google Scholar
  • 3 Thatcher N, Chang A, Parikh P. et al. Gefitinib plus best supportive care in previously treated patients with refractory advanced non-small-cell lung cancer: results from a randomised, placebo-controlled, multicentre study (Iressa Survival Evaluation in Lung Cancer). Lancet 2005; 366 (9496) 1527-1537
    CrossrefPubMedSearch in Google Scholar
  • 4 Parikh PM, Prabhash K, Bhattacharyya GS. et al. Ignore molecular oncology at your peril. Indian J Cancer 2014; 51 (02) 150-153
    CrossrefPubMedSearch in Google Scholar
  • 5 Dasgupta A, Lim AR, Ghajar CM. Circulating and disseminated tumor cells: harbingers or initiators of metastasis?. Mol Oncol 2017; 11 (01) 40-61
    CrossrefPubMedSearch in Google Scholar
  • 6 McGranahan N, Swanton C. Biological and therapeutic impact of intratumor heterogeneity in cancer evolution. Cancer Cell 2015; 27 (01) 15-26
    CrossrefPubMedSearch in Google Scholar
  • 7 Mohanty A, Mohanty SK, Rout S, Pani C. Liquid biopsy, the hype vs. hope in molecular and clinical oncology. Semin Oncol 2021; 48 (03) 259-267
    CrossrefPubMedSearch in Google Scholar
  • 8 Ding Y, Li W, Wang K, Xu C, Hao M, Ding L. Perspectives of the application of liquid biopsy in colorectal cancer. BioMed Res Int 2020; 2020: 6843180
    CrossrefPubMedSearch in Google Scholar
  • 9 Yadav A, Kumar A, Siddiqui MH. Detection of circulating tumour cells in colorectal cancer: emerging techniques and clinical implications. World J Clin Oncol 2021; 12 (12) 1169-1181
    CrossrefPubMedSearch in Google Scholar
  • 10 Thakur K, Singh MS, Feldstein-Davydova S, Hannes V, Hershkovitz D, Tsuriel S. Extracellular vesicle-derived DNA vs. CfDNA as a biomarker for the detection of colon cancer. Genes (Basel) 2021; 12 (08) 1171
    CrossrefPubMedSearch in Google Scholar
  • 11 Gao W, Chen Y, Yang J. et al. Clinical perspectives on liquid biopsy in metastatic colorectal cancer. Front Genet 2021; 12: 634642
    CrossrefPubMedSearch in Google Scholar
  • 12 Mirza S, Bhadresha K, Mughal MJ. et al. Liquid biopsy approaches and immunotherapy in colorectal cancer for precision medicine: are we there yet?. Front Oncol 2023; 12: 1023565
    CrossrefPubMedSearch in Google Scholar
  • 13 Yao S, Han Y, Yang M, Jin K, Lan H. Integration of liquid biopsy and immunotherapy: opening a new era in colorectal cancer treatment. Front Immunol 2023; 14: 1292861
    CrossrefPubMedSearch in Google Scholar
  • 14 Rapado-González Ó, Álvarez-Castro A, López-López R, Iglesias-Canle J, Suárez-Cunqueiro MM, Muinelo-Romay L. Circulating microRNAs as promising biomarkers in colorectal cancer. Cancers (Basel) 2019; 11 (07) 898
    CrossrefPubMedSearch in Google Scholar
  • 15 Germano G, Mauri G, Siravegna G. et al. Parallel evaluation of circulating tumor DNA and circulating tumor cells in metastatic colorectal cancer. Clin Colorectal Cancer 2018; 17 (01) 80-83
    CrossrefPubMedSearch in Google Scholar
  • 16 Fabbri F, Carloni S, Zoli W. et al. Detection and recovery of circulating colon cancer cells using a dielectrophoresis-based device: KRAS mutation status in pure CTCs. Cancer Lett 2013; 335 (01) 225-231
    CrossrefPubMedSearch in Google Scholar
  • 17 Kang JK, Heo S, Kim HP. et al. Liquid biopsy-based tumor profiling for metastatic colorectal cancer patients with ultra-deep targeted sequencing. PLoS One 2020; 15 (05) e0232754
    CrossrefPubMedSearch in Google Scholar
  • 18 Yu H, Han L, Yuan J, Sun Y. Circulating tumor cell free DNA from plasma and urine in the clinical management of colorectal cancer. Cancer Biomark 2020; 27 (01) 29-37
    CrossrefPubMedSearch in Google Scholar
  • 19 Galbiati S, Damin F, Burgio V. et al. Evaluation of three advanced methodologies, COLD-PCR, microarray and ddPCR, for identifying the mutational status by liquid biopsies in metastatic colorectal cancer patients. Clin Chim Acta 2019; 489: 136-143
    CrossrefPubMedSearch in Google Scholar
  • 20 Tsukamoto M, Iinuma H, Yagi T, Matsuda K, Hashiguchi Y. Circulating exosomal microRNA-21 as a biomarker in each tumor stage of colorectal cancer. Oncology 2017; 92 (06) 360-370
    CrossrefPubMedSearch in Google Scholar
  • 21 Yuan L, Guo F, Wang L, Zou Q. Prediction of tumor metastasis from sequencing data in the era of genome sequencing. Brief Funct Genomics 2019; 18 (06) 412-418
    CrossrefPubMedSearch in Google Scholar
  • 22 Parikh AR, Van Seventer EE, Siravegna G. et al. Minimal residual disease detection using a plasma-only circulating tumor DNA assay in patients with colorectal cancer. Clin Cancer Res 2021; 27 (20) 5586-5594
    CrossrefPubMedSearch in Google Scholar
  • 23 Gao Z, Huang D, Chen H. et al. Development and validation of postoperative circulating tumor DNA combined with clinicopathological risk factors for recurrence prediction in patients with stage I-III colorectal cancer. J Transl Med 2023; 21 (01) 63
    CrossrefPubMedSearch in Google Scholar
  • 24 Yang YC, Wang D, Jin L. et al. Circulating tumor DNA detectable in early- and late-stage colorectal cancer patients. Biosci Rep 2018; 38 (04) BSR20180322
    CrossrefPubMedSearch in Google Scholar
  • 25 El Messaoudi S, Mouliere F, Du Manoir S. et al. Circulating DNA as a strong multimarker prognostic tool for metastatic colorectal cancer patient management care. Clin Cancer Res 2016; 22 (12) 3067-3077
    CrossrefPubMedSearch in Google Scholar
  • 26 Hamfjord J, Guren TK, Dajani O. et al. Total circulating cell-free DNA as a prognostic biomarker in metastatic colorectal cancer before first-line oxaliplatin-based chemotherapy. Ann Oncol 2019; 30 (07) 1088-1095
    CrossrefPubMedSearch in Google Scholar
  • 27 Tie J, Kinde I, Wang Y. et al. Circulating tumor DNA as an early marker of therapeutic response in patients with metastatic colorectal cancer. Ann Oncol 2015; 26 (08) 1715-1722
    CrossrefPubMedSearch in Google Scholar
  • 28 Tie J, Cohen JD, Lo SN. et al. Prognostic significance of postsurgery circulating tumor DNA in nonmetastatic colorectal cancer: Individual patient pooled analysis of three cohort studies. Int J Cancer 2021; 148 (04) 1014-1026
    CrossrefPubMedSearch in Google Scholar
  • 29 Faulkner LG, Howells LM, Pepper C, Shaw JA, Thomas AL. The utility of ctDNA in detecting minimal residual disease following curative surgery in colorectal cancer: a systematic review and meta-analysis. Br J Cancer 2023; 128 (02) 297-309
    CrossrefPubMedSearch in Google Scholar
  • 30 Kasi P, Chan C. 23 Circulating tumor DNA (ctDNA) serial analysis during progression on PD-1 blockade and later CTLA4 rescue in patients with mismatch repair deficient metastatic colorectal cancer. J Immunother Cancer 2020; 8 (Suppl. 03) A12-A13
    Search in Google Scholar
  • 31 Henriksen TV, Tarazona N, Reinert T. et al. Circulating tumor DNA analysis for assessment of recurrence risk, benefit of adjuvant therapy, and early relapse detection after treatment in colorectal cancer patients. J Clin Oncol 2021; 39: 3-11
    Search in Google Scholar
  • 32 Taieb J, Taly V, Vernerey D. et al. Analysis of circulating tumour DNA (ctDNA) from patients enrolled in the IDEA-FRANCE phase III trial: prognostic and predictive value for adjuvant treatment duration. Ann Oncol 2019; 30: 5
    CrossrefSearch in Google Scholar
  • 33 Spindler KG, Boysen AK, Pallisgård N. et al. Cell-free DNA in metastatic colorectal cancer: a systematic review and meta-analysis. Oncologist 2017; 22 (09) 1049-1055
    CrossrefPubMedSearch in Google Scholar
  • 34 Tie J, Cohen JD, Lahouel K. et al; DYNAMIC Investigators. Circulating tumor DNA analysis guiding adjuvant therapy in stage II colon cancer. N Engl J Med 2022; 386 (24) 2261-2272
    CrossrefPubMedSearch in Google Scholar
  • 35 Cremolini C, Rossini D, Dell'Aquila E. et al. Rechallenge for patients with RAS and BRAF wild-type metastatic colorectal cancer with acquired resistance to first-line cetuximab and irinotecan: a phase 2 single-arm clinical trial. JAMA Oncol 2019; 5 (03) 343-350
    CrossrefPubMedSearch in Google Scholar
  • 36 Barault L, Amatu A, Siravegna G. et al. Discovery of methylated circulating DNA biomarkers for comprehensive non-invasive monitoring of treatment response in metastatic colorectal cancer. Gut 2018; 67 (11) 1995-2005
    CrossrefPubMedSearch in Google Scholar
  • 37 Chang SC, Liew PL, Ansar M. et al. Hypermethylation and decreased expression of TMEM240 are potential early-onset biomarkers for colorectal cancer detection, poor prognosis, and early recurrence prediction. Clin Epigenetics 2020; 12 (01) 67
    CrossrefPubMedSearch in Google Scholar
  • 38 Jensen SO, Øgaard N, Ørntoft MW. et al. Novel DNA methylation biomarkers show high sensitivity and specificity for blood-based detection of colorectal cancer-a clinical biomarker discovery and validation study. Clin Epigenetics 2019; 11 (01) 158
    CrossrefPubMedSearch in Google Scholar
  • 39 Mo S, Ye L, Wang D. et al. Early detection of molecular residual disease and risk stratification for stage I to III colorectal cancer via circulating tumor DNA methylation. JAMA Oncol 2023; 9 (06) 770-778
    CrossrefPubMedSearch in Google Scholar
  • 40 Raza A, Khan AQ, Inchakalody VP. et al. Dynamic liquid biopsy components as predictive and prognostic biomarkers in colorectal cancer. J Exp Clin Cancer Res 2022; 41 (01) 99
    CrossrefPubMedSearch in Google Scholar
  • 41 Uchino Y, Goto Y, Konishi Y. et al. Colorectal cancer patients have four specific bacterial species in oral and gut microbiota in common-a metagenomic comparison with healthy subjects. Cancers (Basel) 2021; 13 (13) 3332
    CrossrefPubMedSearch in Google Scholar
  • 42 Wang HF, Li LF, Guo SH. et al. Evaluation of antibody level against Fusobacterium nucleatum in the serological diagnosis of colorectal cancer. Sci Rep 2016; 6: 33440
    CrossrefPubMedSearch in Google Scholar
  • 43 Taylor JC, Gao X, Xu J. et al. A type VII secretion system of Streptococcus gallolyticus subsp. gallolyticus contributes to gut colonization and the development of colon tumors. PLoS Pathog 2021; 17 (01) e1009182
    CrossrefPubMedSearch in Google Scholar
  • 44 Mosele F, Remon J, Mateo J. et al. Recommendations for the use of next-generation sequencing (NGS) for patients with metastatic cancers: a report from the ESMO Precision Medicine Working Group. Ann Oncol 2020; 31 (11) 1491-1505
    CrossrefPubMedSearch in Google Scholar
  • 45 Kato S, Okamura R, Baumgartner JM. et al. Analysis of circulating tumor DNA and clinical correlates in patients with esophageal, gastroesophageal junction, and gastric adenocarcinoma. Clin Cancer Res 2018; 24 (24) 6248-6256
    CrossrefPubMedSearch in Google Scholar