Liquid Biopsies in Follicular Thyroid Carcinomas—A Brief Report

Author:

Hansen Marie-Louise Uhre1ORCID,Bendtsen Simone Kloch1ORCID,Jakobsen Kathrine Kronberg1,Schmidt Ane Yde2,Hahn Christoffer Holst1,von Buchwald Christian13ORCID,Grønhøj Christian13

Affiliation:

1. Department of Otorhinolaryngology, Head and Neck Surgery and Audiology, Copenhagen University Hospital, Rigshospitalet, 2100 Copenhagen, Denmark

2. Center for Genomic Medicine, Copenhagen University Hospital, Rigshospitalet, 2100 Copenhagen, Denmark

3. Department of Clinical Medicine, Faculty of Health and Clinical Sciences, University of Copenhagen, 2200 Copenhagen, Denmark

Abstract

Thyroid cancer (TC) represents a significant health burden globally, with follicular thyroid cancer (FTC) posing diagnostic challenges despite advancements. This pilot study aimed to evaluate the utility of a liquid biopsy with cell-free DNA (cfDNA) in patients with FTC. Blood samples were collected from 13 patients diagnosed with FTC, DNA extraction was performed, and cfDNA was analyzed using the Illumina’s TruSight Oncology 500 High-Throughput panel. The results revealed low tumor mutational burden and minimal pathogenic variants in cfDNA, indicating challenges such as low DNA yield and poor material quality despite adequate coverage. Our findings indicate that cfDNA as an add-on diagnostic tool in patients with FTC might not be a useful supplement.

Funder

Ear Doctor Hans Skouby’s og Wife Emma Skouby’s Fundation

Carl og Ellen Hertz’ Scholasrship

Manufacturer Einar Willumsens Memorial Grant

Publisher

MDPI AG

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