Related Experiment Video
Updated: Jul 8, 2026
11:15
Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
Published on: September 20, 2016
24.4K
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
Summary
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.
Related Concept Videos
02:21Cancers Originate from Somatic Mutations in a Single Cell
Cancer arises from mutations in the critical genes that allow healthy cells to escape cell cycle regulation and acquire the ability to proliferate indefinitely. Though originating from a single mutation event in one of the originator cells, cancer progresses when the mutant cell lines continue to gain more and more mutations, and finally, become malignant. For example, chronic myelogenous leukemia (CML) develops initially as a non-lethal increase in white blood cells, which progressively...
02:07Tumor Progression
Tumor progression is a phenomenon where the pre-formed tumor acquires successive mutations to become clinically more aggressive and malignant. In the 1950s, Foulds first described the stepwise progression of cancer cells through successive stages.
Colon cancer is one of the best-documented examples of tumor progression. Early mutation in the APC gene in colon cells causes a small growth on the colon wall called a polyp. With time, this polyp grows into a benign, pre-cancerous tumor. Further...
Colon cancer is one of the best-documented examples of tumor progression. Early mutation in the APC gene in colon cells causes a small growth on the colon wall called a polyp. With time, this polyp grows into a benign, pre-cancerous tumor. Further...
02:21Cancers Originate from Somatic Mutations in a Single Cell
Cancer arises from mutations in the critical genes that allow healthy cells to escape cell cycle regulation and acquire the ability to proliferate indefinitely. Though originating from a single mutation event in one of the originator cells, cancer progresses when the mutant cell lines continue to gain more and more mutations, and finally, become malignant. For example, chronic myelogenous leukemia (CML) develops initially as a non-lethal increase in white blood cells, which progressively...