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Review
. 2020 Mar;35(1):44-54.
doi: 10.3803/EnM.2020.35.1.44.

Recent Improvements in Genomic and Transcriptomic Understanding of Anaplastic and Poorly Differentiated Thyroid Cancers

Seong Keun Yoo  1 , Young Shin Song  2 , Young Joo Park  3   4 , Jeong Sun Seo  5   6   7
Affiliations
Review

Recent Improvements in Genomic and Transcriptomic Understanding of Anaplastic and Poorly Differentiated Thyroid Cancers

Seong Keun Yoo et al. Endocrinol Metab (Seoul). 2020 Mar.

Abstract

Anaplastic thyroid cancer (ATC) is a lethal human cancer with a 5-year survival rate of less than 10%. Recently, its genomic and transcriptomic characteristics have been extensively elucidated over 5 years owing to advance in high throughput sequencing. These efforts have extended molecular understandings into the progression mechanisms and therapeutic vulnerabilities of aggressive thyroid cancers. In this review, we provide an overview of genomic and transcriptomic alterations in ATC and poorly-differentiated thyroid cancer, which are distinguished from differentiated thyroid cancers. Clinically relevant genomic alterations and deregulated signaling pathways will be able to shed light on more effective prevention and stratified therapeutic interventions for affected patients.

Keywords: Genome; High-throughput nucleotide sequencing; Thyroid carcinoma, anaplastic; Thyroid neoplasms; 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. The major genetic contributors to thyroid cancer progression. Progression mechanisms of BRAF-positive papillary thyroid cancer (PTC) and RAS-positive follicular thyroid cancer (FTC) are illustrated. TERT, telomerase reverse transcriptase; TP53, tumor protein p53; CDKN2A, cyclin dependent kinase inhibitor 2A; PIK3CA, phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha; AKT1, AKT serine/threonine kinase 1; ATC, anaplastic thyroid cancer; EIF1AX, eukaryotic translation initiation factor 1A X-linked; FA, follicular adenoma; miFTC, minimally invasive FTC; wiFTC, widely invasive FTC.
Fig. 2
Fig. 2. Transcriptomic signatures of thyroid cancer. (A) Transcriptome based molecular subtype classifications of thyroid cancer according to histological subtypes. From The Cancer Genome Atlas (TCGA)'s original investigation, papillary thyroid cancers are classified into two molecular subtypes, BRAFV600E-like and RAS-like [10]. Afterward, Yoo et al. [11] showed that RAS-like can be breakdown into RAS-like and non-BRAF/non-RAS subtype (NBNR). RAS-like tumors with eukaryotic translation initiation factor 1A X-linked (EIF1AX), paired box 8 (PAX8)-peroxisome proliferator activated receptor gamma (PPARG), and THADA armadillo repeat containing (THADA) fusion were re-classified into NBNR. Dicer 1, ribonuclease III (DICER1), enhancer of zeste 1 polycomb repressive complex 2 subunit (EZH1), isocitrate dehydrogenase (NADP(+)) 1 (IDH1), and speckle type BTB/POZ protein (SPOP) are also associated with NBNR signature. (B) Schematic illustration of activated and deactivated signaling pathways according to the aggressiveness of thyroid cancer. BRS, BRAFV600E-RAS score; MAPK, mitogen-activated protein kinase; ECM, extracellular matrix; PD, programmed death; VEGF, vascular endothelial growth factor; JAK-STAT, Janus kinase-signal transducer and activator of transcription.
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