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Updated: May 14, 2026
08:16
Comparative Lesions Analysis Through a Targeted Sequencing Approach
Published on: November 5, 2019
DNA copy number variations characterize benign and malignant thyroid tumors
Yan Liu1, Leslie Cope, Wenyue Sun
1Department of Surgery, The Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA.
The Journal of Clinical Endocrinology and Metabolism
|January 25, 2013
Summary
Thyroid tumor subtypes have distinct DNA copy number variation (CNV) patterns. A 5-gene signature, particularly involving chromosome 12 amplifications, accurately differentiates benign follicular adenomas from papillary thyroid carcinomas in FNA samples.
Area of Science:
- Genomics
- Oncology
- Molecular Diagnostics
Background:
- Fine-needle aspiration (FNA) is crucial for thyroid nodule evaluation but often yields inconclusive results for surgical guidance.
- Distinguishing between benign and malignant thyroid tumors preoperatively remains a challenge.
Purpose of the Study:
- To investigate if distinct DNA copy number variation (CNV) patterns characterize thyroid tumor subtypes.
- To determine if CNV patterns can improve preoperative classification of thyroid nodules.
Main Methods:
- Compared DNA CNV patterns using 550K SNP arrays in benign follicular adenomas (FAs), classic papillary thyroid carcinomas (PTCs), and follicular variant PTCs (FVPTCs).
- Identified statistically significant CNV differences and developed a gene signature for classification.
- Validated the gene signature in independent cohorts and tested its feasibility in intraoperative FNA samples.
Main Results:
- Segmental amplifications in chromosomes 7 and 12 were more frequent in FAs than PTCs/FVPTCs; deletions in chromosome 22 were observed in a subset of FAs and FVPTCs.
- A 5-gene signature, primarily based on chromosome 12 CNV, achieved 90% accuracy in classifying FAs versus PTCs/FVPTCs.
- The 5-gene signature was successfully validated in independent cohorts and demonstrated feasibility in intraoperative FNA samples.
Conclusions:
- Thyroid tumor subtypes exhibit characteristic genomic profiles.
- These genomic profiles, particularly CNV patterns, offer potential for improved diagnostic biomarkers in FNA samples.
- This research may enhance the preoperative classification of thyroid nodules, guiding surgical management more effectively.
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