Integrative analysis of genomic and transcriptomic characteristics associated with progression of aggressive thyroid cancer

Seong-Keun Yoo, Young Shin Song, Eun Kyung Lee, Jinha Hwang, Hwan Hee Kim, Gyeongseo Jung, Young A Kim, Su-jin Kim, Sun Wook Cho, Jae-Kyung Won, Eun-Jae Chung, Jong-Yeon Shin, Kyu Eun Lee, Jong-Il Kim, Young Joo Park () and Jeong-Sun Seo ()
Additional contact information
Seong-Keun Yoo: Seoul National University
Young Shin Song: Seoul National University College of Medicine
Eun Kyung Lee: National Cancer Center
Jinha Hwang: Seoul National University Graduate School
Hwan Hee Kim: Seoul National University College of Medicine
Gyeongseo Jung: Seoul National University College of Medicine
Young A Kim: Seoul National University Boramae Medical Center
Su-jin Kim: Seoul National University College of Medicine
Sun Wook Cho: Seoul National University College of Medicine
Jae-Kyung Won: Seoul National University College of Medicine
Eun-Jae Chung: Seoul National University College of Medicine
Jong-Yeon Shin: Seoul National University
Kyu Eun Lee: Seoul National University
Jong-Il Kim: Seoul National University
Young Joo Park: Seoul National University
Jeong-Sun Seo: Seoul National University

Nature Communications, 2019, vol. 10, issue 1, 1-12

Abstract: Abstract Anaplastic thyroid cancer (ATC) and advanced differentiated thyroid cancers (DTCs) show fatal outcomes, unlike DTCs. Here, we demonstrate mutational landscape of 27 ATCs and 86 advanced DTCs by massively-parallel DNA sequencing, and transcriptome of 13 ATCs and 12 advanced DTCs were profiled by RNA sequencing. TERT, AKT1, PIK3CA, and EIF1AX were frequently co-mutated with driver genes (BRAFV600E and RAS) in advanced DTCs as well as ATC, but tumor suppressors (e.g., TP53 and CDKN2A) were predominantly altered in ATC. CDKN2A loss was significantly associated with poor disease-specific survival in patients with ATC or advanced DTCs, and up-regulation of CD274 (PD-L1) and PDCD1LG2 (PD-L2). Transcriptome analysis revealed a fourth molecular subtype of thyroid cancer (TC), ATC-like, which hardly reflects the molecular signatures in DTC. Furthermore, the activation of JAK-STAT signaling pathway could be a potential druggable target in RAS-positive ATC. Our findings provide insights for precision medicine in patients with advanced TCs.

Date: 2019
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DOI: 10.1038/s41467-019-10680-5

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