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자료유형
학술저널
저자정보
송영신 (Department of Internal Medicine Seoul National University Hospital) 박영주 (서울대학교)
저널정보
대한내분비학회 Endocrinology and Metabolism Endocrinology and Metabolism Vol.34 No.1
발행연도
2019.1
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1 - 10 (10page)

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Since the release of The Cancer Genome Atlas study of papillary thyroid carcinoma (PTC) in 2014, additional genomic studies ofdifferentiated thyroid carcinoma (DTC) using massively-parallel sequencing (MPS) have been published. Recent advances in MPStechnology have started to provide important insights into the molecular pathogenesis of DTC. In the genomic landscape, the mostrecurrently 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 ofDTC (classical PTC, follicular variant of PTC, and follicular thyroid carcinoma). Telomerase reverse transcriptase (TERT) promotermutations 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, anddescribe the types and frequencies of genomic alterations according to histological classifications of DTC and the characteristics andsignificance of the gene expression signatures of DTC.

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