Circulating tumour DNA, a promising biomarker for the management of colorectal cancer

Khakoo, Shelize; Georgiou, Alexandros; Gerlinger, Marco; Cunningham, David; Starling, Naureen

doi:10.1016/j.critrevonc.2017.12.002

Cited by 39 publications

(25 citation statements)

References 46 publications

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“…The ctDNA analysis as liquid biopsy provides an opportunity to accurately assess the status of cancer patients with a much cheaper, faster, and reliable method, because ctDNA serve as promising diagnostic, prognostic, and predictive marker. In addition to commonly used DNA recognition methods, including PCR, real-time PCR, Digital PCR based techniques (e.g., droplet digital PCR), PARE and BEAMing, [ 157 , 164 , 165 ]. Recent developments in Next Generation Sequencing (NGS) provide a new method for ctDNA investigation.…”

Section: Identifying Os Stem Cell Populations As Therapeutic Targetsmentioning

confidence: 99%

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Novel molecular insights and new therapeutic strategies in osteosarcoma

et al. 2018

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Osteosarcoma (OS) is one of the most prevalent malignant cancers with lower survival and poor overall prognosis mainly in children and adolescents. Identifying the molecular mechanisms and OS stem cells (OSCs) as new concepts involved in disease pathogenesis and progression may potentially lead to new therapeutic targets. Therefore, therapeutic targeting of OSCs can be one of the most important and effective strategies for the treatment of OS. This review describes the new molecular targets of OS as well as novel therapeutic approaches in the design of future investigations and treatment.

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Section: Identifying Os Stem Cell Populations As Therapeutic Targetsmentioning

confidence: 99%

“…CtDNA can also be used as a medical tool available to physicians for changing current approach in personalized cancer management, since it is capable of providing accurate data about each patient. However, this technique still needs further optimization [ 157 , 164 ].…”

Section: Identifying Os Stem Cell Populations As Therapeutic Targetsmentioning

confidence: 99%

Novel molecular insights and new therapeutic strategies in osteosarcoma

et al. 2018

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“…Recently, presence of ctDNA was confirmed in WT patients using epigenetic modifications such as hypermethylation. [17][18][19] Meth-ctDNA seems to represent tumor-specific DNA and is found in nearly all colorectal adenocarcinomas, 10 as opposed to ctDNA based on RAS/RAF mutations. It may be a major step forward, if mut-ctDNA can be replaced by meth-ctDNA in several clinical settings.…”

Section: Discussionmentioning

confidence: 99%

Correlation Between Tumor-Specific Mutated and Methylated DNA in Colorectal Cancer

Thomsen

Andersen

Lindebjerg

et al. 2019

JCO Precision Oncology

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PURPOSE Analysis of circulating tumor DNA (ctDNA) is a potential improvement in precision medicine. In colorectal cancer (CRC), somatic mutations such as RAS and RAF in the blood (mut-ctDNA) are investigated for prognostic and predictive purposes. However, they are only present in approximately 60% of patients. Recently, ctDNA has been detected in patients with RAS/ RAF wild type (WT) by methylated ctDNA (meth-ctDNA). The aim of this study was to compare mutated DNA with methylated DNA in malignant and nonmalignant tissue and plasma from CRC cohorts to establish a universal biomarker for ctDNA in all patients with CRC. MATERIALS AND METHODS Tissue (n = 170) and plasma (n = 147) samples were analyzed for RAS/ RAF mutations and neuropeptide Y methylation by droplet digital polymerase chain reaction. Tissue originated from nonmalignant WT and RAS/ RAF-mutated adenomas, tumor-adjacent colorectal tissue, and WT and RAS/ RAF-mutated tumor tissue. Plasma samples represented healthy donors and localized and metastatic CRCs. RESULTS The level of neuropeptide Y–methylated DNA in the tissue cohorts differed between nonmalignant and malignant/premalignant tissues with minimal overlap. Furthermore, meth-ctDNA was detected in plasma from 100% of patients with metastatic disease, compared with 67% of those with localized disease and 8% of healthy donors. Median fraction of meth-ctDNA in metastatic and localized cancers was 13.25% and 0.04%, respectively. Correlation between mut-ctDNA and meth-ctDNA was high ( r = 0.77 and 0.80 in localized and metastatic settings, respectively). CONCLUSION Mut-ctDNA is interchangeable with meth-ctDNA in patients with CRC. On the basis of our results, meth-ctDNA should be considered a universal biomarker in metastatic CRC, but additional investigations of clinical utility are warranted.

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“…Advances in NGS technology have expanded the ability to detect cancer mutations in blood and enriched the clinical application of ctDNA-based liquid biopsies. Compared to dPCR, the ability to analyze larger target regions is also at the expense of lower sensitivities to detect rare mutations within 0.1% of the mutated DNA fragment or slightly less than 0.1% [64].…”

Section: Detection Of Ctdnamentioning

confidence: 99%

Perspectives of the Application of Liquid Biopsy in Colorectal Cancer

Ding

Wang

et al. 2020

BioMed Research International

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Colorectal cancer (CRC) is one of the most common gastrointestinal tumors and the second leading cause of cancer death worldwide. Since traditional biopsies are invasive and do not reflect tumor heterogeneity or monitor the dynamic progression of tumors, there is an urgent need for new noninvasive methods that can supplement and improve the current management strategies of CRC. Blood-based liquid biopsies are a promising noninvasive biomarker that can detect disease early, assist in staging, monitor treatment responses, and predict relapse and metastasis. Over time, an increasing number of experiments have indicated the clinical utility of liquid biopsies in CRC. In this review, we mainly focus on the development of circulating tumor cells and circulating tumor DNA as key components of liquid biopsies in CRC and introduce the potential of exosomal microRNAs as emerging liquid biopsy markers in clinical application for CRC.

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Circulating tumour DNA, a promising biomarker for the management of colorectal cancer

Cited by 39 publications

References 46 publications

Novel molecular insights and new therapeutic strategies in osteosarcoma

Novel molecular insights and new therapeutic strategies in osteosarcoma

Correlation Between Tumor-Specific Mutated and Methylated DNA in Colorectal Cancer

Perspectives of the Application of Liquid Biopsy in Colorectal Cancer

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