Circulating tumor DNA as a biomarker in metastatic colorectal carcinoma − case report
Authors:
K. Menclová 1; J. Pudil 1; L. Benešová 2; T. Hálková 2; R. Ptáčková 2; A. Semyakina 2; M. Minárik 2,3; M. Levý 4; J. Šimša 4; F. Pazdírek 5; J. Hoch 5; M. Bláha 6; M. Ryska 1
Authors‘ workplace:
Chirurgická klinika 2. lékařské fakulty Univerzity Karlovy a Ústřední vojenská nemocnice – Vojenská fakultní nemocnice Praha
1; Centrum aplikované genomiky solidních nádorů, Genomac výzkumný ústav, Praha
2; Elphogene, Praha
3; Chirurgická klinika 1. lékařské fakulty Univerzity Karlovy a Thomayerovy nemocnice, Praha
4; Chirurgická klinika 2. lékařské fakulty Univerzity Karlovy a Fakultní nemocnice Motol, Praha
5; Institut biostatistiky a analýz Masarykovy univerzity, Brno
6
Published in:
Rozhl. Chir., 2020, roč. 99, č. 4, s. 179-182.
Category:
Case Report
doi:
https://doi.org/10.33699/PIS.2020.99.4.179–182
Overview
Introduction: Colorectal cancer (CRC) is the third most common malignant disease worldwide. The stage of the disease at the time of diagnosis and the capture of an early recurrence have a direct impact on long-term survival. Existing control screening methods often do not reflect real-time metastatic disease. In patients with detectable circulating tumor DNA (ctDNA), liquid biopsy can be an effective monitoring tool.
Case report: In 2012, we performed sigmoid resection in a 57 years old patient for advanced CRC. The follow-up assessments included: blood samples for CA 19-9 and CEA, endoscopy and imaging methods. We also sampled peripheral blood to determine the level of ctDNA. Its value corresponded to the development of the disease throughout the period. Twice it outperformed imaging methods. CEA showed some degree of unreliability, especially after prolonged illness. CA 19-9 was in the normal range at all times.
Conclusion: Circulating tumor DNA is an effective tool in the diagnosis of recurrent metastatic CRC. In patients with detectable ctDNA, its level correlates with the tumoral mass in real time. It has a predictive value in monitoring the treatment response. Its implementation in the follow-up of patients with CRC may have an impact on the choice of treatment strategy and consequently on patient survival.
Keywords:
colorectal cancer – metastases – biomarkers – Circulating tumor DNA – follow-up
Sources
- Reinert T, Schøler LV, Thomsen R, et al. Analysis of circulating tumor DNA to monitor disease burden following colorectal cancer surgery. Gut 2016;65:625–634. doi:10.1136/gutjnl-2014-308859.
- Labianca R, Nordlinger B, Beretta GD, et al. Early colon cancer: ESMO Clinical Practice Guidelines for diagnosis, treatment and follow-up. Ann Oncol. 2013;24(6)64−72. doi:10.1093/annonc/mdt354.
- Kin C, Kidess E, Poultsides GA, et al. Colorectal cancer diagnostics: biomarkers, cell-free DNA, circulating tumor cells and defining heterogeneous populations by single-cell analysis. Expert Review of Molecular Diagnostics 2013;13:6,581−599. doi:10.1586/14737159.2013.811896.
- 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;26:1715−1722. doi:10.1093/annonc/mdv177.
- Parkin DM, Bray F, Ferlay J, et al. Global cancer statistics. Cancer J Clin. 2005;55(2):74−108. doi:10.3322/canjclin.55.2.74.
- Bohm B, Schwenk W, Hucke HP, et al. Does methodic long-term follow-up affect survival after curative resection of colorectal carcinoma? Dis Colon Rectum 1993;36:280−6. doi:10.1007/bf02053511.
- Chao M, Gibbs P. Caution is required before recommending routine carcinoembryonic antigen and imaging follow-up for patients with early-stage colon cancer. J Clin Oncol. 2015;26,644−656. doi:10.1200/JCO.2009.25.6156.
- Benesova L, Halkova T, Ptackova R, et al. Significance of postoperative follow-up of patients with metastatic colorectal cancer using circulating tumor DNA. World J Gastroenterol. 2019;25(48):6939−6948. doi:10.3748/wjg.v25.i48.6939.
- Diehl F, Li M, Dressman D, et al. Detection and quantification of mutations in the plasma of patients with colorectal tumors. Proc Natl Acad Sci USA 2005;102(45):16368−16373. doi:10.1073/pnas.0507904102.
- 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. doi:10.1158/2159-8290.
- Benesova L, Belsanova B, Suchanek S, et al. Mutation-based detection and monitoring of cell-free tumor DNA in peripheral blood of cancer patients. Anal Biochem. 2013;433(2)227−234. doi:10.1016/j.ab.2012.06.018.
- Bettegowoda 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. doi:10.1126/scitranslmed.3007094.
- Minarikova P, Benesova L, Belsanova B, et al. Evaluation of circulating-tumor DNA (ctDNA) as a source material for molecular phenotyping of colorectal tumors. J Clin Oncol. 2015;33:642. doi:10.1200/jco.2015.33.3_suppl.642.
- Tie J, Wang Y, Tomasetti C, et al. Circulating tumor DNA analysis detects minimal residual disease and predicts recurrence in patients with stage II colon cancer. Sci Transl Med. 2016;8:346ra92. doi:10.1126/scitranslmed.aaf6219.
- Benesova L, Belsanova B, Halkova T, et al. The significance of postoperative follow-up of patients with advanced colorectal cancer using circulating tumor DNA: Selected case studies. Cancer Res. 2017;77(3) 524. doi:10.1158/1538-7445.
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