Assessing CSF ctDNA to Improve Diagnostic Accuracy and Therapeutic Monitoring in Breast Cancer Leptomeningeal Metastasis

Fitzpatrick, Amanda; Iravani, Marjan; Mills, Adam; Childs, Lucy; Alaguthurai, Thanussuyah; Clifford, Angela; García-Murillas, Isaac; Laere, Steven Van; Dirix, Luc; Harries, Mark; Okines, Alicia; Turner, Nicholas C.; Haider, Syed; Tutt, Andrew; Isacke, Clare M.

doi:10.1158/1078-0432.ccr-21-3017

Cited by 45 publications

(42 citation statements)

References 46 publications

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“…By reviewing the title and abstract of the article, we excluded 3 duplicate articles and 179 articles that did not meet the inclusion criteria. We then read the full text of the remaining 33 articles, excluding 24 articles according to the exclusion criteria and incorporating 9 articles ( 9 – 17 ). The literature screening process for this study is shown in Figure 1 .…”

Section: Resultsmentioning

confidence: 99%

Comparison of the diagnostic value of liquid biopsy in leptomeningeal metastases: A systematic review and meta-analysis

Wang

Fang

et al. 2022

Front. Oncol.

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BackgroundBrain metastases (BM) include brain parenchymal (BPM) and leptomeningeal metastases (LM), which are associated with a poor prognosis and high mortality rate. Early and accurate diagnosis and timely, effective treatment are crucial for improving the overall survival of LM patients. Cerebrospinal fluid (CSF) biopsy technology has attracted widespread attention for its diagnostic value in diverse cancers, including LM. We summarized studies to compare the potential diagnostic value of CSF liquid biopsy techniques in BM patients with meta-analysis.MethodsThe study protocol was prospectively registered in PROSPERO, registration number CRD42022373263. We obtained the literature on liquid biopsy for BM from 7 databases (PubMed, Embase, Cochrane Library, Web of Science, China National Knowledge Infrastructure, and Wanfang Data knowledge service platform). Then, a systematic review of those studies was performed according to PRISMA criteria.ResultsNine publications have been obtained, and we found CSF liquid biopsy techniques to be more suitable for diagnosing LM. We analyzed the sensitivity, specificity, and area under the curve (AUC) of CSF liquid biopsy. The overall sensitivity, specificity, and AUC of CSF liquid biopsy in the diagnosis of LM were 0.65 (95% CI: 0.48 - 0.79), 0.70 (95% CI: 0.50 - 0.86), and 0.69, respectively. Then, we compared the diagnostic advantages of CSF liquid biopsy techniques and CSF cytology in LM. The results show that CSF liquid biopsy is superior to CSF cytology in LM diagnosis.ConclusionsOur meta-analysis suggested that CSF liquid biopsy is more suitable for LM diagnosis and has higher accuracy than CSF cytology.

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Section: Resultsmentioning

confidence: 99%

Comparison of the diagnostic value of liquid biopsy in leptomeningeal metastases: A systematic review and meta-analysis

Wang

Fang

et al. 2022

Front. Oncol.

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“…Univariate analysis and a stratified multivariate analysis showed that the ctDNA score was associated with the overall prognosis of prostate cancer [ 104 ]. A high level of ctDNA was detected by Amanda et al [ 105 ] in 24 patients with positive brain metastases of breast cancer using ULP-WGS, but none of the patients with negative ctDNA were detected. Further, the diagnostic effect of ctDNA was far better than that of the current gold standard, namely, cerebrospinal fluid cytology and the conventional diagnostic method MRI.…”

Section: Clinical Application Of Ctdna During Cancer Progressionmentioning

confidence: 99%

Circulating Tumor DNA—A Novel Biomarker of Tumor Progression and Its Favorable Detection Techniques

Wen

Liu

et al. 2022

Cancers

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Cancer is the second leading cause of death in the world and seriously affects the quality of life of patients. The diagnostic techniques for tumors mainly include tumor biomarker detection, instrumental examination, and tissue biopsy. In recent years, liquid technology represented by circulating tumor DNA (ctDNA) has gradually replaced traditional technology with its advantages of being non-invasive and accurate, its high specificity, and its high sensitivity. ctDNA may carry throughout the circulatory system through tumor cell necrosis, apoptosis, circulating exosome secretion, etc., carrying the characteristic changes in tumors, such as mutation, methylation, microsatellite instability, gene rearrangement, etc. In this paper, ctDNA mutation and methylation, as the objects to describe the preparation process before ctDNA analysis, and the detection methods of two gene-level changes, including a series of enrichment detection techniques derived from PCR, sequencing-based detection techniques, and comprehensive detection techniques, are combined with new materials. In addition, the role of ctDNA in various stages of cancer development is summarized, such as early screening, diagnosis, molecular typing, prognosis prediction, recurrence monitoring, and drug guidance. In summary, ctDNA is an ideal biomarker involved in the whole process of tumor development.

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“…Thus, plasma ctDNA analysis of 30 patients with known leptomeningeal metastasis was carried out to assess the potential of ctDNA in diagnosing this disease stage. Plasma ctDNA yield was limited to patients who had previous whole-brain irradiation and had extracranial disease progression [ 28 ].…”

Section: Cell-free Dna In Diagnosismentioning

confidence: 99%

The Role of Cell-Free DNA in Cancer Treatment Decision Making

Telekes

Horváth

2022

Cancers

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The aim of this review is to evaluate the present status of the use of cell-free DNA and its fraction of circulating tumor DNA (ctDNA) because this year July 2022, an ESMO guideline was published regarding the application of ctDNA in patient care. This review is for clinical oncologists to explain the concept, the terms used, the pros and cons of ctDNA; thus, the technical aspects of the different platforms are not reviewed in detail, but we try to help in navigating the current knowledge in liquid biopsy. Since the validated and adequately sensitive ctDNA assays have utility in identifying actionable mutations to direct targeted therapy, ctDNA may be used for this soon in routine clinical practice and in other different areas as well. The cfDNA fragments can be obtained by liquid biopsy and can be used for diagnosis, prognosis, and selecting among treatment options in cancer patients. A great proportion of cfDNA comes from normal cells of the body or from food uptake. Only a small part (<1%) of it is related to tumors, originating from primary tumors, metastatic sites, or circulating tumor cells (CTCs). Soon the data obtained from ctDNA may routinely be used for finding minimal residual disease, detecting relapse, and determining the sites of metastases. It might also be used for deciding appropriate therapy, and/or emerging resistance to the therapy and the data analysis of ctDNA may be combined with imaging or other markers. However, to achieve this goal, further clinical validations are inevitable. As a result, clinicians should be aware of the limitations of the assays. Of course, several open questions are still under research and because of it cfDNA and ctDNA testing are not part of routine care yet.

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Assessing CSF ctDNA to Improve Diagnostic Accuracy and Therapeutic Monitoring in Breast Cancer Leptomeningeal Metastasis

Cited by 45 publications

References 46 publications

Comparison of the diagnostic value of liquid biopsy in leptomeningeal metastases: A systematic review and meta-analysis

Comparison of the diagnostic value of liquid biopsy in leptomeningeal metastases: A systematic review and meta-analysis

Circulating Tumor DNA—A Novel Biomarker of Tumor Progression and Its Favorable Detection Techniques

The Role of Cell-Free DNA in Cancer Treatment Decision Making

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