The prognostic value of circulating tumor DNA in patients with melanoma: A systematic review and meta-analysis

Feng, Siyang; Cen, Xintao; Tan, Rui; Wei, Shuyi; Sun, Li

doi:10.1016/j.tranon.2021.101072

Cited by 8 publications

(13 citation statements)

References 36 publications

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“…Since early and accurate diagnosis and prognosis have a crucial impact on the outcome of these diseases, clinical practice is constantly looking for new genetic and molecular markers that could facilitate an early diagnosis or an accurate setting of the prognosis for both cancerous and non-cancerous diseases, in order to reduce morbidity and improve patients’ survival [ 30 , 42 , 43 , 44 , 45 , 46 ]. This is particularly relevant for SC, since the number of new cases is expected greatly increase in the next future due to increasing UV exposure and population age [ 1 , 47 , 48 ].…”

Section: Introductionmentioning

confidence: 99%

Beyond Nicotinamide Metabolism: Potential Role of Nicotinamide N-Methyltransferase as a Biomarker in Skin Cancers

Campagna

Pozzi

Salvolini

et al. 2021

Cancers

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Skin cancers (SC) collectively represent the most common type of malignancy in white populations. SC includes two main forms: malignant melanoma and non-melanoma skin cancer (NMSC). NMSC includes different subtypes, namely, basal cell carcinoma (BCC), squamous cell carcinoma (SCC), Merkel cell carcinoma (MCC), and keratoacanthoma (KA), together with the two pre-neoplastic conditions Bowen disease (BD) and actinic keratosis (AK). Both malignant melanoma and NMSC are showing an increasing incidence rate worldwide, thus representing an important challenge for health care systems, also because, with some exceptions, SC are generally characterized by an aggressive behavior and are often diagnosed late. Thus, identifying new biomarkers suitable for diagnosis, as well as for prognosis and targeted therapy is mandatory. Nicotinamide N-methyltransferase (NNMT) is an enzyme that is emerging as a crucial player in the progression of several malignancies, while its substrate, nicotinamide, is known to exert chemopreventive effects. Since there is increasing evidence regarding the involvement of this enzyme in the malignant behavior of SC, the current review aims to summarize the state of the art as concerns NNMT role in SC and to support future studies focused on exploring the diagnostic and prognostic potential of NNMT in skin malignancies and its suitability for targeted therapy.

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Section: Introductionmentioning

confidence: 99%

Beyond Nicotinamide Metabolism: Potential Role of Nicotinamide N-Methyltransferase as a Biomarker in Skin Cancers

Campagna

Pozzi

Salvolini

et al. 2021

Cancers

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“…Multiple serological protein markers have been explored, with lactate dehydrogenase (LDH) currently the only marker with some clinical value for monitoring treatment response and prognosis; however, its sensitivity and specificity are lacking ( 3 , 4 , 17 – 19 ). Other markers such as S100B, MIA protein, CRO, PD-L1, IL-8, TIL, osteopontin, and YKL-40 have been explored; however, their clinical utility is limited as many of these markers are associated with other biological processes such as inflammation, infection, autoimmune conditions or other cancers ( 17 , 19 ). Aside from LDH and S100B, there are no additional clinically validated liquid biomarkers that can be used to detect early-stage melanoma, pre-treatment prognosis, expected treatment outcomes, or monitor treatment outcomes in metastatic melanoma ( 12 , 18 ).…”

Section: Circulating Melanoma Biomarkersmentioning

confidence: 99%

“…ctDNA levels are associated with tumor burden, location, and vascularity, and the rate of cellular turnover ( 16 – 18 ). As patients with early-stage or MIS have low tumor burden and vascularity, ctDNA levels are often not detectable in these groups using conventional technology ( 3 , 16 , 17 ). There are also technical issues in detecting and analyzing ctDNA.…”

Section: Molecular Profilingmentioning

confidence: 99%

“…There is however a lack of consistency in blood collection processes, including types of tubes used, time to plasma separation and processing, and storage and transport conditions ( 16 , 37 ). These differences make analysis and comparison across different study groups troublesome; thus, cut-off values have not been established, reducing the clinical utility of ctDNA ( 3 , 17 ). Finally, to distinguish ctDNA from cfDNA, specific somatic mutations in the melanoma tumor must first be identified ( 3 ).…”

Section: Molecular Profilingmentioning

confidence: 99%

“…In patients who had detectable baseline ctDNA, there was a correlation with tumor burden and LDH, suggesting that ctDNA may reveal tumor burden in the absence of imaging ( 13 , 18 , 36 ). In addition, elevated baseline ctDNA levels correlate with reduced overall response rate, and shortened PFS and OS in melanoma patients treated with targeted or immune therapies ( 16 , 17 , 34 , 39 ).…”

Section: Molecular Profilingmentioning

confidence: 99%

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Current Trends in Circulating Biomarkers for Melanoma Detection

2022

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Melanomas have increased in global incidence and are the leading cause of skin cancer deaths. Whilst the majority of early-stage, non-metastatic melanomas can be cured with surgical excision alone, ~5% of patients with early melanomas will experience recurrence following a variable disease-free interval and progression to metastatic melanoma and ultimately death. This is likely because of primary tumor heterogeneity and progressive clonal divergency resulting in the growth of more aggressive tumor populations. Liquid biomarkers have the advantage of real-time, non-invasive longitudinal monitoring of tumor burden and heterogeneity over tissue markers. Currently, the only serological marker used in the staging and monitoring of melanoma is serum lactate dehydrogenase, which is not sufficiently specific or sensitive, and is not used routinely in all centers. An ideal melanoma biomarker would be used to identify patients who are at high-risk of primary melanoma, screen for relapse, detect early-stage melanoma, provide treatment outcomes to personalize systemic treatment, follow tumor heterogeneity, provide prognostic data before, during and after treatment, and monitor response to treatment. This review provides a summary of the current research in this field with a specific focus on circulating tumor cells, circulating tumor DNA, microRNA, and extracellular vesicles which may serve to suit these goals.

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Higher 13‐Gene‐Estimated TMB Detected from Plasma ctDNA is Associated with Worse Outcome for T‐Cell Lymphoma Patients

Chen,

Huang,

Chen

et al. 2023

Advanced Biology

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Exome sequencing of in situ tumor samples reveals that mutated genes can predict the prognosis of patients with T‐cell lymphoma (TCL). However, how tumor mutation burden (TMB) derived from circulating tumor DNA (ctDNA) may stratify TCL patients remains unclear.The plasma ctDNA of 79 newly diagnosed TCL patients from the clinical center is used for targeted exome sequencing, and the exome data of 4035 TCL patients from the Catalogue of Somatic Mutations in Cancer (COSMIC) database is obtained for comparison analysis.TCL patients with higher TMB, as evaluated with a panel of 120 genes (panel‐TMB120), are associated with poor prognosis. More importantly, COX regression analysis identifies a subset of 13 genes in panel‐TMB120, including AP3B1 (Adaptor related protein complex 3 subunit beta 1), ATM (Ataxia‐telangiectasia mutated), BCL6 (B cell lymphoma 6), BRAF (B‐Raf proto‐oncogene, serine/threonine kinase), CDKN2B (Cyclin dependent kinase inhibitor 2B), EPCAM (Epithelial cell adhesion molecule), FBXO11 (F‐box protein 11), JAK1 (Janus kinase 1), MDM2 (Murine double minute 2), NF1 (Neurofibromin 1), STAT5B (Signal transducer and activator of transcription 5B), STAT6 (Signal transducer and activator of transcription 6), and TET2 (Tet methylcytosine dioxygenase 2), which are significantly associated with prognosis. Specifically, higher TMB values calculated with these 13 genes (panel‐TMB13) are able to significantly predict unfavorable prognosis for these patients. Together, panel‐TMB13 and the International Prognostic Index (IPI) are used for risk stratification.Panel‐TMB13 is identified, which can predict poor prognosis for TCL patients carrying higher panel‐TMB13 scores and suggest that panel‐TMB13 may be a potential biomarker for supplement risk stratification of TCL patients.

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The prognostic value of circulating tumor DNA in patients with melanoma: A systematic review and meta-analysis

Cited by 8 publications

References 36 publications

Beyond Nicotinamide Metabolism: Potential Role of Nicotinamide N-Methyltransferase as a Biomarker in Skin Cancers

Beyond Nicotinamide Metabolism: Potential Role of Nicotinamide N-Methyltransferase as a Biomarker in Skin Cancers

Current Trends in Circulating Biomarkers for Melanoma Detection

Higher 13‐Gene‐Estimated TMB Detected from Plasma ctDNA is Associated with Worse Outcome for T‐Cell Lymphoma Patients

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