Detection and relevance of epigenetic markers on ctDNA: recent advances and future outlook

Lianidou, Evi

doi:10.1002/1878-0261.12978

Cited by 52 publications

(30 citation statements)

References 88 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Tumor-specific DNA methylation is described during early tumorigenesis, and presents high potential for early detection but also for tumor localization [31]. The analysis of epigenetic features of cfDNA or its fragmentation pattern leads to increased sensitivity of the ctDNA detection tests [32] and has led to the development of plasma-only assays to assess MRD.…”

Section: Evidence Of Mrd In Crcmentioning

confidence: 99%

Advantages and Challenges of Using ctDNA NGS to Assess the Presence of Minimal Residual Disease (MRD) in Solid Tumors

Larribère

Martens

2021

Cancers

View full text Add to dashboard Cite

The ability to detect minimal residual disease (MRD) after a curative-intent surgery or treatment is of paramount importance, because it offers the possibility to help guide the clinical decisions related adjuvant therapy. Thus, the earlier MRD is detected, the earlier potentially beneficial treatment can be proposed to patients who might need it. Liquid biopsies, and in particular the next-generation sequencing of circulating tumor DNA (ctDNA) in the blood, have been the focus of an increasing amount of research in the past years. The ctDNA detection at advanced cancer stages is practicable for several solid tumors, and complements molecular information on acquired therapy resistance. In the context of MRD, it is by definition more challenging to detect ctDNA, but it is technically achievable and provides information on treatment response and probability of relapse significantly earlier than standard imaging methods. The clinical benefit of implementing this new technique in the routine is being tested in interventional clinical trials at the moment. We propose here an update of the current use of ctDNA detection by NGS as a tool to assess the presence of MRD and improve adjuvant treatment of solid tumors. We also discuss the main limitations and medium-term perspectives of this process in the clinic.

show abstract

Section: Evidence Of Mrd In Crcmentioning

confidence: 99%

Advantages and Challenges of Using ctDNA NGS to Assess the Presence of Minimal Residual Disease (MRD) in Solid Tumors

Larribère

Martens

2021

Cancers

View full text Add to dashboard Cite

show abstract

“…In clinical routine, multiple histological biopsies are required to monitor the response of cancer patients to treatment. However, tissue biopsies are invasive procedures and in some cases cannot be performed; for this reason, the scientific community has high expectations that liquid biopsy will surrogate tissue biopsies for the detection, prognosis, and therapeutic management of cancer patients [ 18 , 19 , 20 ].…”

Section: Introductionmentioning

confidence: 99%

“…In recent years, DNA methylation analysis in CTCs and ctDNA has shown strong potential, since it provides a valuable source of novel circulating epigenetic biomarkers for diagnosis, prognosis, risk assessment, and disease monitoring in many types of cancer [ 20 ]. Our group was the first to demonstrate epigenetic alterations in CTCs and corresponding ctDNA [ 21 , 22 ].…”

Section: Introductionmentioning

confidence: 99%

“…In breast cancer we reported that ESR1 methylation in CTCs and ctDNA was correlated with lack of response to treatment [ 23 , 24 ]. Moreover, we reported that in breast cancer, CST6 and BRMS1 methylation was detected in ctDNA and CTCs, in ovarian cancer RASSFIA and ESR1 methylation was detected in ctDNA, while in NSCLC BRMS1 and SOX17 methylation was detected in ctDNA [ 20 ].…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

USP44 Promoter Methylation in Plasma Cell-Free DNA in Prostate Cancer

Londra

Mastoraki

Bournakis

et al. 2021

Cancers

Self Cite

View full text Add to dashboard Cite

Liquid biopsy provides real-time monitoring of tumor evolution and response to therapy through analysis of circulating tumor cells (CTCs) and plasma-circulating tumor DNA (ctDNA). USP44 is a critical gene which plays an important role in cell proliferation; however, its accurate role in other cellular networks is under research. USP44 promoter methylation has been so far reported in colorectal neoplasia and metastatic breast cancer. In this study, we examined for the first time USP44 promoter methylation in plasma cell-free DNA (cfDNA) of patients with prostate cancer (early stage n = 32, metastatic n = 39) and 10 healthy donors (HD). USP44 promoter methylation was detected in plasma cell-free DNA by a newly developed highly specific and sensitive real-time MSP method. Our findings indicate that USP44 promoter is methylated in plasma cell-free DNA of metastatic prostate cancer patients and that detection of USP44 promoter methylation is significantly associated with overall survival (OS) (p = 0.008). We report for the first time that detection of USP44 promoter methylation in plasma cell free DNA provides significant prognostic information in metastatic prostate cancer.

show abstract

“…The scientific basis of liquid biopsy is that the diseased cells, such as a tumor, may release specific biomolecules into body fluids, these specific molecules thus represent a certain pathological status. For over a decade, the circulating nucleic acids have been considered valuable molecules of liquid biopsy, for they may be highly elevated in cancer patients [12,13]. Recently, microRNAs (miRNAs) have been found in various body fluids, including in plasma, saliva, and urine [14][15][16][17][18][19], providing a promising strategy to develop miRNAs as minimally invasive biomarkers.…”

Section: Introductionmentioning

confidence: 99%

Systemic Investigation Identifying Salivary miR-196b as a Promising Biomarker for Early Detection of Head-Neck Cancer and Oral Precancer Lesions

et al. 2021

View full text Add to dashboard Cite

Background: Liquid biopsy is a rapidly growing field, for it may provide a minimally invasive way to acquire pathological data for personalized medicine. This study developed a systemic strategy to discover an effective salivary biomarker for early detection of patients with head-neck squamous carcinoma (HNSC) and oral precancer lesion (OPC). Methods: A total of 10 miRNAs were examined in parallel with multiple independent cohorts. These included a training set of salivary samples from HNSC patients, the TCGA-HNSC and GSE31277 cohorts to differentiate miRNAs between tumor and normal tissues, and groups of salivary samples from healthy individuals, patients with HNSC and OPC. Results: The combined results from the salivary training set and the TCGA-HNSC cohort showed that four miRNAs (miR-148b, miR-155, miR-196b, and miR-31) consistently increased in HNSC patients. Further integration with the GSE31277 cohort, two miRNAs (miR-31 and miR-196b) maintained at high significances. Further assessment showed that salivary miR-196b was a prominent diagnostic biomarker, as it remarkably discriminated between healthy individuals and patients with HNSC (p < 0.0001, AUC = 0.767, OR = 5.64) or OPC (p < 0.0001, AUC = 0.979, OR = 459). Conclusion: Salivary miR-196b could be an excellent biomarker for diagnosing OPC and early detection of HNSC. This molecule may be used for early screening high-risk groups of HNSC.

show abstract

Detection and relevance of epigenetic markers on ctDNA: recent advances and future outlook

Cited by 52 publications

References 88 publications

Advantages and Challenges of Using ctDNA NGS to Assess the Presence of Minimal Residual Disease (MRD) in Solid Tumors

Advantages and Challenges of Using ctDNA NGS to Assess the Presence of Minimal Residual Disease (MRD) in Solid Tumors

USP44 Promoter Methylation in Plasma Cell-Free DNA in Prostate Cancer

Systemic Investigation Identifying Salivary miR-196b as a Promising Biomarker for Early Detection of Head-Neck Cancer and Oral Precancer Lesions

Contact Info

Product

Resources

About