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Review
. 2019 Mar;34(1):1-10.
doi: 10.3803/EnM.2019.34.1.1.

Genomic Characterization of Differentiated Thyroid Carcinoma

Young Shin Song  1 , Young Joo Park  1   2
Affiliations
Review

Genomic Characterization of Differentiated Thyroid Carcinoma

Young Shin Song et al. Endocrinol Metab (Seoul). 2019 Mar.

Abstract

Since the release of The Cancer Genome Atlas study of papillary thyroid carcinoma (PTC) in 2014, additional genomic studies of differentiated thyroid carcinoma (DTC) using massively-parallel sequencing (MPS) have been published. Recent advances in MPS technology have started to provide important insights into the molecular pathogenesis of DTC. In the genomic landscape, the most recurrently altered genes in DTC, which has a low mutational burden relative to other cancers, are BRAF, RAS, and fusion genes. Some novel driver candidates also have been identified. The frequency of these genomic alterations varies across the subtypes of DTC (classical PTC, follicular variant of PTC, and follicular thyroid carcinoma). Telomerase reverse transcriptase (TERT) promoter mutations are the alteration that makes the most important contribution to the progression of DTC. In the transcriptomic landscape, DTC can be classified according to its gene expression profile, and each subtype has a distinct mutational profile, intracellular signaling output, and clinicopathological characteristics. Herein, we review the results of genomic studies using MPS technology, and describe the types and frequencies of genomic alterations according to histological classifications of DTC and the characteristics and significance of the gene expression signatures of DTC.

Keywords: Genome; High-throughput nucleotide sequencing; Thyroid cancer, follicular; Thyroid cancer, papillary; Transcriptome.

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Conflict of interest statement

No potential conflict of interest relevant to this article was reported.

Figures

Fig. 1
Fig. 1. Frequencies of driver mutations in differentiated thyroid carcinoma. Classical papillary thyroid carcinoma (cPTC) in the studies of (A) The Cancer Genome Atlas (TCGA) [4] and (B) Yoo et al. [6] (upper), follicular variant of papillary thyroid carcinoma (FVPTC) in the studies of (C) TCGA [4] and (D) Yoo et al. [6] (middle), and follicular adenoma/follicular thyroid carcinoma (FA/FTC) in the studies of (E) Yoo et al. [6] and (F) Jung et al. [35] (lower).
See this image and copyright information in PMC

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