Detecting liquid remnants of solid tumors treated with curative intent: Circulating tumor DNA as a biomarker of minimal residual disease (Review)

Chen, Huijuan; Zhou, Qiming

doi:10.3892/or.2023.8543

Cited by 8 publications

(4 citation statements)

References 93 publications

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“…Tumor-agnostic approaches do not require prior knowledge of existing tumor mutations 19 , and consequently the same assay of a given platform is used for every patient. In contrast, tumor-informed approaches require the sequencing of the tumor tissue and the subsequent development of a specific ctDNA assay unique to each patient.…”

Section: Technical Aspects Of Ctdna Detection In Early Breast Cancermentioning

confidence: 99%

“…For instance, while the latter is generally more sensitive for detecting low tumoral variant allele frequencies (VAF) 18 , it is also more time-consuming because it requires prior sequencing of the tumor and the development of a personalized assay for every patient as a first step 14 . In addition, tumor-informed methods cannot identify emerging mutations not present in the sequencing of the tissue biopsy nor can it be used for BC screening given the lack of known tumor mutation status at this stage 19 .…”

Section: Technical Aspects Of Ctdna Detection In Early Breast Cancermentioning

confidence: 99%

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Use of ctDNA in early breast cancer: analytical validity and clinical potential

Panet,

Papakonstantinou,

Borrell

et al. 2024

npj Breast Cancer

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Circulating free tumor DNA (ctDNA) analysis is gaining popularity in precision oncology, particularly in metastatic breast cancer, as it provides non-invasive, real-time tumor information to complement tissue biopsies, allowing for tailored treatment strategies and improved patient selection in clinical trials. Its use in early breast cancer has been limited so far, due to the relatively low sensitivity of available techniques in a setting characterized by lower levels of ctDNA shedding. However, advances in sequencing and bioinformatics, as well as the use of methylome profiles, have led to an increasing interest in the application of ctDNA analysis in early breast cancer, from screening to curative treatment evaluation and minimal residual disease (MRD) detection. With multiple prospective clinical trials in this setting, ctDNA evaluation may become useful in clinical practice. This article reviews the data regarding the analytical validity of the currently available tests for ctDNA detection and the clinical potential of ctDNA analysis in early breast cancer.

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Section: Technical Aspects Of Ctdna Detection In Early Breast Cancermentioning

confidence: 99%

Section: Technical Aspects Of Ctdna Detection In Early Breast Cancermentioning

confidence: 99%

Use of ctDNA in early breast cancer: analytical validity and clinical potential

Panet,

Papakonstantinou,

Borrell

et al. 2024

npj Breast Cancer

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“…This transient nature of ctDNA is clinically significant, because it serves as a dynamic biomarker for early detection of multiple cancers, detection of molecular residual disease (MRD), and monitoring therapeutic efficacy across a spectrum of tumors. Various liquid biopsy techniques and platforms, including tumor-informed and tumor-agnostic ctDNA assays, have been developed to detect MRD of all tumor types [ 9 – 11 ].…”

Section: Introductionmentioning

confidence: 99%

Bridging horizons beyond CIRCULATE-Japan: a new paradigm in molecular residual disease detection via whole genome sequencing-based circulating tumor DNA assay

Hashimoto,

Nakamura,

Oki

et al. 2024

Int J Clin Oncol

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Circulating tumor DNA (ctDNA) is the fraction of cell-free DNA in patient blood that originates from a tumor. Advances in DNA sequencing technologies and our understanding of the molecular biology of tumors have increased interest in exploiting ctDNA to facilitate detection of molecular residual disease (MRD). Analysis of ctDNA as a promising MRD biomarker of solid malignancies has a central role in precision medicine initiatives exemplified by our CIRCULATE-Japan project involving patients with resectable colorectal cancer. Notably, the project underscores the prognostic significance of the ctDNA status at 4 weeks post-surgery and its correlation to adjuvant therapy efficacy at interim analysis. This substantiates the hypothesis that MRD is a critical prognostic indicator of relapse in patients with colorectal cancer. Despite remarkable advancements, challenges endure, primarily attributable to the exceedingly low ctDNA concentration in peripheral blood, particularly in scenarios involving low tumor shedding and the intrinsic error rates of current sequencing technologies. These complications necessitate more sensitive and sophisticated assays to verify the clinical utility of MRD across all solid tumors. Whole genome sequencing (WGS)-based tumor-informed MRD assays have recently demonstrated the ability to detect ctDNA in the parts-per-million range. This review delineates the current landscape of MRD assays, highlighting WGS-based approaches as the forefront technique in ctDNA analysis. Additionally, it introduces our upcoming endeavor, WGS-based pan-cancer MRD detection via ctDNA, in our forthcoming project, SCRUM-Japan MONSTAR-SCREEN-3.

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“…Circulating tumor DNA (ctDNA) obtained from cell-free DNA (cfDNA) in liquid biopsy samples contains biomarkers that could be used to predict response to therapy. With the advancement of ctDNA technology, the use of ctDNA as a surrogate biomarker to monitor disease progression and detect minimal residual disease and resistance mechanisms has been explored in clinical trials [ 10 , 11 ].…”

Section: Introductionmentioning

confidence: 99%

Potential value of ctDNA monitoring in metastatic HR + /HER2 − breast cancer: longitudinal ctDNA analysis in the phase Ib MONALEESASIA trial

Chiu,

Su,

Joshi

et al. 2023

BMC Med

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Background There is increasing interest in the use of liquid biopsies, but data on longitudinal analyses of circulating tumor DNA (ctDNA) remain relatively limited. Here, we report a longitudinal ctDNA analysis of MONALEESASIA, a phase Ib trial evaluating the efficacy and safety of ribociclib plus endocrine therapy (ET) in Asian patients with hormone receptor–positive, human epidermal growth factor receptor-2–negative advanced breast cancer. Methods MONALEESASIA enrolled premenopausal and postmenopausal Japanese and postmenopausal non-Japanese Asian patients. All patients received ribociclib with ET (letrozole, fulvestrant, or tamoxifen with goserelin). ctDNA was analyzed using a targeted next-generation sequencing panel of 572 cancer-related genes and correlated by best overall response (BOR). Results Five hundred seventy-four cell-free DNA samples from 87 patients were tested. The most frequently altered genes at baseline included PIK3CA (29%) and TP53 (22%). Treatment with ribociclib plus ET decreased ctDNA in most patients at the first on-treatment time point, regardless of dose or ET partner. Patients with partial response and stable disease had lower ctDNA at baseline that remained low until data cutoff if no progressive disease occurred. Most patients with progressive disease as the best response had higher ctDNA at baseline that remained high at the end of treatment. For patients with partial response and stable disease with subsequent progression, ctDNA increased towards the end of treatment in most patients, with a median lead time of 83 days (14–309 days). In some patients with BOR of partial response who experienced disease progression later, specific gene alterations and total ctDNA fraction increased; this was sometimes observed concurrently with the development of new lesions without a change in target lesion size. Patients with alterations in PIK3CA and TP53 at baseline had shorter median progression-free survival compared with patients with wild-type PIK3CA and TP53, 12.7 and 7.3 months vs 19.2 and 19.4 months, respectively (P = .016 and P = .0001, respectively). Conclusions Higher ctDNA levels and PIK3CA and TP53 alterations detected at baseline were associated with inferior outcomes. On-treatment ctDNA levels were associated with different patterns based on BOR. Longitudinal tracking of ctDNA may be useful for monitoring tumor status and detection of alterations with treatment implications. Trial registration ClinicalTrials.gov NCT02333370. Registered on January 7, 2015.

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Detecting liquid remnants of solid tumors treated with curative intent: Circulating tumor DNA as a biomarker of minimal residual disease (Review)

Cited by 8 publications

References 93 publications

Use of ctDNA in early breast cancer: analytical validity and clinical potential

Use of ctDNA in early breast cancer: analytical validity and clinical potential

Bridging horizons beyond CIRCULATE-Japan: a new paradigm in molecular residual disease detection via whole genome sequencing-based circulating tumor DNA assay

Potential value of ctDNA monitoring in metastatic HR + /HER2 − breast cancer: longitudinal ctDNA analysis in the phase Ib MONALEESASIA trial

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