ArticleBiomarker research2023
Circulating cell-free DNA (cfDNA) in patients with medullary thyroid carcinoma is characterized by specific fragmentation and methylation changes with diagnostic value.
Article in Biomarker research, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 5 citations in OpenAlex.
- Targeted therapies in the management of advanced medullary thyroid cancer.The oncologist · 2026Review
- Integrative analysis of tumor-educated platelets for stage-specific diagnosis, prognosis, and therapy in ovarian cancer.Discover oncology · 2026Article
- Article
- Recent advances on gene-related DNA methylation in cancer diagnosis, prognosis, and treatment: a clinical perspective.Clinical epigenetics · 2025Review
- Integrating multi-cohort machine learning and clinical sample validation to explore peripheral blood mRNA diagnostic biomarkers for prostate cancer.Cancer cell international · 2025Article
- Epigenetic Modifications as Novel Biomarkers for Diagnosis, Prognosis, and Therapeutic Targeting in Thyroid, Pancreas, and Lung Neuroendocrine Tumors.Journal of clinical medicine · 2025Review
- Microfluidic biosensors for biomarker detection in body fluids: a key approach for early cancer diagnosis.Biomarker research · 2024Review
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Authors and funding
20 authors at 6 institutions in 1 country.
Funding
Abstract
Medullary Thyroid Carcinoma (MTC) is a rare neuroendocrine tumour whose diagnosis includes evaluating calcitonin serum levels, which can present fluctuations unrelated to MTC. Here, we investigated circulating DNA fragmentation and methylation changes as potential biomarkers using ddPCR on cell-free DNA (cfDNA) isolated from the plasma of MTC patients. For cfDNA fragmentation analysis, we investigated the fragment size distribution of a gene family and calculated short fragment fraction (SFF). Methylation analyses evaluated the methylation levels of CG_16698623, a CG dinucleotide in the MGMT gene that we found hypermethylated in MTC tissues by analyzing public databases. The SFF ratio and methylation of CG_16698623 were significantly increased in plasma from MTC patients at diagnosis, and patients with clinical remission or stable disease at follow-up showed no significant SFF difference compared with healthy subjects. Our data support the diagnostic value of cfDNA traits that could enable better management of MTC patients.
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