Epithelial ovarian cancer and the use of circulating tumor DNA: A systematic review

Thusgaard, Christine Fribert; Korsholm, Malene; Koldby, Kristina Magaard; Kruse, Torben A.; Thomassen, Mads; Jochumsen, Kirsten Marie

doi:10.1016/j.ygyno.2021.04.020

Cited by 16 publications

(8 citation statements)

References 56 publications

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“…Liquid biopsy has many clinical impacts. Recent studies have shown that detected positive cases have poorer survival than detected negative cases including therapeutic response and prognosis [44][45][46][47][48]. This is consistent with our findings.…”

Section: Discussionsupporting

confidence: 93%

Clinical application of liquid biopsy in cancer patients

et al. 2022

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Background This study was to determine the prevalence and clinical significance of clonal hematopoiesis (CH)-related variants, and somatic and germline mutations in cancer patients and healthy individuals. Methods We performed next-generation sequencing of 275 cancer-related genes be-tween plasma and white blood cells in 92 cancer patients and 47 controls without cancer. Blood samples were recruited from May 2017 to July 2021, and blood cancer patients were excluded. For all statistical analysis in this study, p < 0.05 was considered statistically significant. Results Overall, 38.04% of patients and 46.81% of controls harbored at least one CH-related mutation in plasma cell-free DNA. Based on our results, older cancer patients exhibited a CH phenomenon more frequently than younger patients (p = 0.0024). A total of 39 somatic pathogenic (P)/likely pathogenic (LP) mutations were identified in 17 genes in 21 of 92 patients. We found that the presence of P/LP variants in cancer-related gene predicted shorter overall survival (OS) (p = 0.001). Multivariate analysis adjusted for CH-related mutations, germline mutations, and tumor stage, also indicated that somatic mutations correlated significantly with OS (p = 0.022). Moreover, the frequency of a germline P/LP variant was that of seven of 92 individuals in the cancer group and one of 42 individuals in the control group. Conclusions We characterized the CH-related variants, and somatic and germline mutations in cancer patients and healthy individuals, and the results have important clinical significance.

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Section: Discussionsupporting

confidence: 93%

Clinical application of liquid biopsy in cancer patients

et al. 2022

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“…ctDNA has better diagnostic performance compared to traditional CA-125 with several studies demonstrating that quantitative analysis of ctDNA has a relatively high specificity of 88% and sensitivity ranging from 27–100% [ 92 , 162 – 168 ]. A recent systematic review of 23 studies evaluating ctDNA for the diagnosis of EOC in symptomatic patients preoperatively yielded similar results [ 89 , 96 , 153 , 154 , 156 – 158 , 160 – 162 , 166 , 167 , 169 – 179 ]. Other studies that evaluated ctDNA analysis in HGSOC patients for TP53 mutation detection, reported high sensitivity (75–100%) and specificity (> 80%) [ 45 , 89 – 91 ].…”

Section: Clinical Applications Of Liquid Biopsy For Ovarian Cancermentioning

confidence: 78%

Potential clinical utility of liquid biopsies in ovarian cancer

2022

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Background Ovarian cancer (OC) is the most lethal gynecologic malignancy worldwide. One of the main challenges in the management of OC is the late clinical presentation of disease that results in poor survival. Conventional tissue biopsy methods and serological biomarkers such as CA-125 have limited clinical applications. Liquid biopsy is a novel sampling method that analyzes distinctive tumour components released into the peripheral circulation, including circulating tumour DNA (ctDNA), circulating tumour cells (CTCs), cell-free RNA (cfRNA), tumour-educated platelets (TEPs) and exosomes. Increasing evidence suggests that liquid biopsy could enhance the clinical management of OC by improving early diagnosis, predicting prognosis, detecting recurrence, and monitoring response to treatment. Capturing the unique tumour genetic landscape can also guide treatment decisions and the selection of appropriate targeted therapies. Key advantages of liquid biopsy include its non-invasive nature and feasibility, which allow for serial sampling and longitudinal monitoring of dynamic tumour changes over time. In this review, we outline the evidence for the clinical utility of each liquid biopsy component and review the advantages and current limitations of applying liquid biopsy in managing ovarian cancer. We also highlight future directions considering the current challenges and explore areas where more studies are warranted to elucidate its emerging clinical potential.

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“…Recently, advances in therapeutic monitoring in EOC have been made with circulating tumor DNA (ctDNA) providing important evidence about its utility in determining outcome and individualizing cancer therapy in patients with EOC [65][66][67]; on the contrary, the role of circulating miRNAs in EOC clinical monitoring needs to be further investigated in order to obtain a larger concordance between the results from independent investigators. Of note, we should bear in mind that ctDNA represents a sort of barcode originating directly from the tumor, but "liquid" miRNAs are not derived uniquely from the cancerous mass.…”

Section: Discussionmentioning

confidence: 99%

Role of Circulating miRNAs in Therapeutic Response in Epithelial Ovarian Cancer: A Systematic Revision

et al. 2021

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Epithelial ovarian cancer (EOC) is one of the most lethal cancers worldwide, mostly due to nonspecific symptoms and a lack of screening tests, which, taken together, contribute to delayed diagnosis and treatment. The current clinical biomarker is serum CA-125, which allows the identification of most advanced primary and relapsed disease and correlates with disease burden; however, as well highlighted in the literature, CA-125 often lacks sensitivity and specificity, and is not helpful in monitoring chemotherapeutic response or in predicting the risk of relapse. Given that, the identification of novel biomarkers able to foster more precise medical approaches and the personalization of patient management represents an unmet clinical requirement. In this context, circulating miRNAs may represent an interesting opportunity as they can be easily detected in all biological fluids. This is particularly relevant when looking for non-invasive approaches that can be repeated over time, with no pain and stress for the oncological patient. Given that, the present review aims to describe the circulating miRNAs currently identified as associated with therapeutic treatments in OC and presents a complete overview of the available evidence.

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Epithelial ovarian cancer and the use of circulating tumor DNA: A systematic review

Cited by 16 publications

References 56 publications

Clinical application of liquid biopsy in cancer patients

Clinical application of liquid biopsy in cancer patients

Potential clinical utility of liquid biopsies in ovarian cancer

Role of Circulating miRNAs in Therapeutic Response in Epithelial Ovarian Cancer: A Systematic Revision

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