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

Biomarker Research

Correspondence

Eleonora Loi¹  Patrizia Zavattari¹  Giuseppina Catanzaro²  Sofia Trocchianesi²  Zaira Spinello²  Anna Citarella²  Antonio Angeloni²  Elisabetta Ferretti²  Zein Mersini Besharat²  Tanja Milena Autilio²  Maria Grazia Castagna³  Silvia Cantara³  Agnese Po⁴  Elena Splendiani⁵  Antonella Verrienti⁶  Cosimo Durante⁶  Rosella Elisei⁷  Cristina Romei⁷  Raffaele Ciampi⁷  Luciano Pezzullo⁸ 

[1] Department of Biomedical Sciences, Unit of Biology and Genetics, University of Cagliari, 09042, Cagliari, Italy;Department of Experimental Medicine, Sapienza University of Rome, 00161, Rome, Italy;Department of Medical, Surgical and Neurological Sciences, University of Siena, 53100, Siena, Italy;Department of Molecular Medicine, Sapienza University of Rome, 00161, Rome, Italy;Department of Movement, Human and Health Sciences, University of Foro Italico, 00135, Rome, Italy;Department of Translational and Precision Medicine, Sapienza University of Rome, 00161, Rome, Italy;Endocrine Unit, Department of Clinical and Experimental Medicine, University of Pisa, 56126, Pisa, Italy;Thyroid Surgical Unit, IRCCS Fondazione G.Pascale, 80131, Naples, Italy;

关键词: Medullary thyroid carcinoma;    Rare tumour;    Cell-free DNA;    Circulating DNA methylation;    Circulating DNA fragmentation;    Circulating biomarker;   

DOI  :  10.1186/s40364-023-00522-4

 received in 2023-06-02, accepted in 2023-09-05,  发布年份 2023

来源: Springer

【 摘 要 】

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.

【 授权许可】

CC BY   
© Yumed Inc. and BioMed Central Ltd., part of Springer Nature 2023

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