Characterization of the Thyroid Cancer Genomic Landscape by Plasma-Based Circulating Tumor DNA Next-Generation Sequencing
Authors' conclusion
Plasma-based comprehensive NGS is a promising NGS method in TC
Study context
- Population
- Adults with thyroid cancer, plasma samples tested with Guardant360® circulating tumor DNA (ctDNA) next-generation sequencing (NGS), Guardant Health database, 2016–2021; median age 65 (range 10–98), 47.3% male
- Participants
- 1,094 adults
- Exposure
- Anaplastic TC (ATC) vs papillary TC (PTC) vs follicular TC (FTC) vs OCA vs poorly differentiated TC (PDTC) vs medullary TC (MTC) vs thyroid cancer (TC) NOS
- ATCn = 92
- PTCn = 62
- FTCn = 14
- OCAn = 16
- PDTCn = 2
- MTCn = 32
- TC NOSn = 876
- Outcome
- Genomic alterations detected by ctDNA NGS
Methodological detailsretrospective database analysis, Guardant360® plasma-NGS
- Retrospective database analysis
- Guardant360® plasma-NGS
Main finding
As reported in the abstract
- ≥1 genomic alteration detected by ctDNA NGS
- 78.3%
- TP53, most common mutation among all TC
- 46.9%
- BRAFV600E in ATC
- 27.2%
- BRAFV600E in PTC
- 35.7%
- BRAFV600E in FTC
- 0
- RAS in ATC
- 18.5%
- RAS in PTC
- 11.9%
- RAS in FTC
- 62.5%
- RET fusions, all TC
- 1.1%
- ALK fusions, all TC
- 0.5%
- NTRK fusions, all TC
- 0.2%
- RET mutations in MTC
- 66.7%
Observational data: associations, not effects.
Further findings
Blood tumor mutation burden (bTMB)
- Mean bTMB higher in ATC vs other types of TC (p = 0.0011, 0.0557, and <0.0001, respectively)
- bTMB analysed in 159 patients
Original publication
Characterization of the Thyroid Cancer Genomic Landscape by Plasma-Based Circulating Tumor DNA Next-Generation Sequencing. Thyroid. Published 14 November 2023. doi:10.
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