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Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
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Characterization of the Thyroid Cancer Genomic Landscape by Plasma-Based Circulating Tumor DNA Next-Generation

Valentina D Tarasova1, Jill Tsai2, Jude Masannat2

  • 1Department of Head and Neck-Endocrine Oncology, Moffitt Cancer Center, Tampa, Florida, USA.

Thyroid : Official Journal of the American Thyroid Association
|November 14, 2023
PubMed

Insights

Plasma-based next-generation sequencing (NGS) identified genomic alterations in 78.3% of thyroid cancer (TC) patients. This approach shows promise for detecting actionable mutations in various TC subtypes, aiding targeted therapy development.

Area of Science:

  • Oncology
  • Genomics
  • Molecular Diagnostics

Background:

  • Limited targeted therapies for thyroid cancer (TC) necessitate identifying new therapeutic targets.
  • Plasma-based circulating tumor DNA (ctDNA) next-generation sequencing (NGS) is an emerging tool for genomic biomarker detection in solid tumors.
  • Genomic alterations in TC using plasma-based ctDNA have not been previously characterized.

Purpose of the Study:

  • To profile actionable mutations detected via ctDNA in patients with diverse thyroid cancer subtypes.
  • To analyze the landscape of genomic alterations and blood tumor mutation burden (bTMB) in various TC types.

Main Methods:

  • Retrospective analysis of the Guardant Health, Inc. database (2016-2021).
  • Utilized the Guardant360® plasma-NGS test on samples from 1094 adult TC patients.
  • Analyzed genomic alterations and bTMB across different TC subtypes: anaplastic TC (ATC), papillary TC (PTC), follicular TC (FTC), oncolytic carcinoma of the thyroid (OCA), poorly differentiated TC (PDTC), medullary TC (MTC), and TC not otherwise specified (TC NOS).

Main Results:

  • 78.3% of patients exhibited at least one genomic alteration detected by ctDNA NGS.
  • TP53 (46.9%) was the most frequent mutation across all TC types.
  • Specific mutations were identified: BRAF in ATC (27.2%) and PTC (35.7%); RAS in FTC (62.5%); RET mutations in MTC (66.7%).
  • RET, ALK, and NTRK fusions were detected at low frequencies (1.1%, 0.5%, 0.2% respectively).
  • Mean bTMB was significantly higher in ATC compared to other TC types.

Conclusions:

  • Plasma-based comprehensive NGS is a promising method for genomic profiling in thyroid cancer.
  • This approach can detect actionable mutations across various TC subtypes.
  • Further validation using paired tumor and plasma samples is required to confirm clinical utility.
Keywords:
ctDNAgenomicsliquid biopsythyroid cancer

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