Liquid Biopsies in the Clinical Management of Germ Cell Tumor Patients: State-of-the-Art and Future Directions

Lobo, João; Leão, Ricardo; Jerónimo, Carmen; Henrique, Rui

doi:10.3390/ijms22052654

Cited by 18 publications

(29 citation statements)

References 174 publications

(87 reference statements)

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“… 16 In light of this, accurate and non-invasive biomarkers are needed for more precise diagnosis, follow-up for disease progression and relapse detection, as well as to spare patients from a possibly unneeded radical orchiectomy. 2 , 13 , 17 Biomarker research centered on liquid biopsies (LBs) has promised to solve the problems of tissue biopsies and high tumor heterogeneity. 18 , 19 …”

Section: Introductionmentioning

confidence: 99%

“…20 The application of LB allows both repetitive and minimally invasive biomarker analysis, regardless of tumor heterogeneity. This combined with the accessibility of LB material and the minimum of inconvenience to the patient 13 , 21 , 22 makes it of special interest in pathologies, such as TGCT. 13 …”

Section: Introductionmentioning

confidence: 99%

“…This combined with the accessibility of LB material and the minimum of inconvenience to the patient 13 , 21 , 22 makes it of special interest in pathologies, such as TGCT. 13 …”

Section: Introductionmentioning

confidence: 99%

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The utility of cfDNA in TGCT patient management: a systematic review

et al. 2022

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Background: Testicular germ cell tumors (TGCTs) are the most common young male malignancy with a steadily rising incidence. Standard clinical practice is radical orchidectomy of suspicious lumps followed by histopathological diagnosis and tumor subtyping. This practice can lead to complications and quality of life issues for the patients. Liquid biopsies, especially cell-free DNA (cfDNA), promised to be true surrogates for tissue biopsies, which are considered dangerous to perform in cases of testicular tumors. In this study, we have performed a systematic review on the potential of cfDNA in TGCT patient management, its potential challenges in translation to clinical application and possible approaches in further research. Materials & Methods: The review was performed according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines on EuropePMC and PUBMED electronic databases, with the last update being on October 21, 2021. Due to the high heterogeneity in identified research articles, we have performed an overview of their efficacy. Results: Eight original articles have been identified on cfDNA in TGCT patients published from 2004 to 2021, of which six had more than one TGCT patient enrolled and were included in the final analysis. Three studies investigated cfDNA methylation, one has investigated mutations in cfDNA, two have investigated cfDNA amount, and one has investigated cfDNA integrity in TGCT. The sensitivity of cfDNA for TGCT was found to be higher than in serum tumor markers and lower than miR-371a-3p, with comparable specificity. cfDNA methylation analysis has managed to accurately detect teratoma in TGCT patients. Conclusion: Potential challenges in cfDNA application to TGCT patient management were identified. The challenges relating to the biology of TGCT with its low mutational burden and low cfDNA amounts in blood plasma make next-generation sequencing (NGS) methods especially challenging. We have also proposed possible approaches to help find clinical application, including a focus on cfDNA methylation analysis, and potentially solving the challenge of teratoma detection.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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The utility of cfDNA in TGCT patient management: a systematic review

et al. 2022

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“…This may be of increasing relevance as mutation profiles in TGCTs could have implications on diagnosis and treatment algorithms in the future. 69 In addition, isochromosome 12 (i12p), another evolving biomarker with high sensitivity and specificity for TGCT, [70][71][72][73][74] can be detected in ctDNA via in situ hybridization or next generation sequencing, which makes plasma an attractive medium. Importantly, hemolysis may vary between the analysis of miRNA in serum versus plasma, leading to unreliable results; as a consequence, this needs to be considered in sample processing and the interpretation of results.…”

Section: Current Imaging (Bio)markers and Their Deficienciesmentioning

confidence: 99%

Improving outcomes in germ cell cancers using miRNA

Conduit

2021

Ther Adv Med Oncol

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Owing to advances in treatment paradigms across the last five decades, testicular cancer is now eminently curable. However, current serum tumour and imaging biomarkers lack adequate sensitivity, specificity, and predictive value. Subsequently, their utility in detecting active malignancy and informing treatment decisions is minimal in a large proportion of men with testicular cancer. Micro-ribonucleic acids (miRNA), pertinently miR-371a-3p, offer a new tool, which based on early data, appears to fill many of the gaps that existing biomarkers leave. This paper reviews the evolution of the technology, potential limitations, and discusses the clinical relevance of miRNA as it moves towards the clinic.

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“…Liquid biopsies are considered a minimally invasive means for managing cancer patients, and they can be applied in diagnosis, follow-up, and prediction to therapy. Liquid biopsies can be used for the detection of circulating tumor cells (CTCs), cell-free tumor DNA (ctDNA), and non-coding RNAs [246]. Circulating non-coding RNAs (miRNA and lncRNAs) have been proposed as potential biomarkers for the early detection of OC.…”

Section: Circulating Lncrnas As Diagnostic and Prognostic Biomarkers For Ocsmentioning

confidence: 99%

(In)Distinctive Role of Long Non-Coding RNAs in Common and Rare Ovarian Cancers

Sabol

Calleja‐Agius

Fiore

et al. 2021

Cancers

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Rare ovarian cancers (ROCs) are OCs with an annual incidence of fewer than 6 cases per 100,000 women. They affect women of all ages, but due to their low incidence and the potential clinical inexperience in management, there can be a delay in diagnosis, leading to a poor prognosis. The underlying causes for these tumors are varied, but generally, the tumors arise due to alterations in gene/protein expression in cellular processes that regulate normal proliferation and its checkpoints. Dysregulation of the cellular processes that lead to cancer includes gene mutations, epimutations, non-coding RNA (ncRNA) regulation, posttranscriptional and posttranslational modifications. Long non-coding RNA (lncRNA) are defined as transcribed RNA molecules, more than 200 nucleotides in length which are not translated into proteins. They regulate gene expression through several mechanisms and therefore add another level of complexity to the regulatory mechanisms affecting tumor development. Since few studies have been performed on ROCs, in this review we summarize the mechanisms of action of lncRNA in OC, with an emphasis on ROCs.

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Liquid Biopsies in the Clinical Management of Germ Cell Tumor Patients: State-of-the-Art and Future Directions

Cited by 18 publications

References 174 publications

The utility of cfDNA in TGCT patient management: a systematic review

The utility of cfDNA in TGCT patient management: a systematic review

Improving outcomes in germ cell cancers using miRNA

(In)Distinctive Role of Long Non-Coding RNAs in Common and Rare Ovarian Cancers

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