Circulating cell-free DNA (cfDNA) in patients with medullary thyroid carcinoma is characterized by specific fragmentation and methylation changes with diagnostic value

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...

Full description

Saved in:
Bibliographic Details
Published in:Biomarker research 2023-09, Vol.11 (1), p.1-82, Article 82
Main Authors: Citarella, Anna, Besharat, Zein Mersini, Trocchianesi, Sofia, Autilio, Tanja Milena, Verrienti, Antonella, Catanzaro, Giuseppina, Splendiani, Elena, Spinello, Zaira, Cantara, Silvia, Zavattari, Patrizia, Loi, Eleonora, Romei, Cristina, Ciampi, Raffaele, Pezzullo, Luciano, Castagna, Maria Grazia, Angeloni, Antonio, Elisei, Rosella, Durante, Cosimo, Po, Agnese, Ferretti, Elisabetta
Format: Article
Language:English
Subjects:
Analysis
Biomarkers
Calcitonin
Cancer
Carcinoma
Cell-free DNA
Circulating biomarker
Circulating DNA fragmentation
Circulating DNA methylation
Correspondence
Diagnosis
DNA
DNA fragmentation
DNA methylation
Epigenetics
Genetic aspects
Internet
Medullary thyroid carcinoma
Methylation
Mutation
Neuroendocrine tumors
Rare tumour
Remission
Serum levels
Size distribution
Surgery
Thyroid cancer
Thyroid carcinoma
Thyroid diseases
Trends
Tumors
Citations: Items that this one cites
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
ISSN:2050-7771
2050-7771
DOI:10.1186/s40364-023-00522-4