Fig. 1Frequencies 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).
Table 1Summary of Major Genomic Studies of Differentiated Thyroid Carcinoma Analyzed Using the Massively-Parallel Sequencing Method
Study |
Subtype |
Country (ethnicity) |
Significance |
TCGA (2014) [4] |
PTC (n=496) |
USA (mainly Caucasian) |
The first integrative genomic analysis of thyroid carcinoma |
Illustrated the detailed mutational profile of PTC |
Introduced the novel conception of a thyroid carcinoma classification (BVL and RL) based on molecular characteristics |
Costa et al. (2015) [17] |
PTC (n=18) |
France (Caucasian) |
Replicated the existence of the BVL and RL subtypes identified by TCGA in thyroid carcinoma |
Identified a novel fusion gene rearrangement, WNK1-B4GALNT3, in PTC |
Pan et al. (2016) [18] |
PTC (n=402) |
China (East Asian) |
Identified a novel tumor suppressor, GAS8-AS1, and a driver gene, LPAR4, in PTC |
Yoo et al. (2016) [6] |
PTC (n=125) |
Korea (East Asian) |
The first mutational and transcriptional profiling of FA and FTC |
FA (n=25) |
Identified a third molecular subtype of thyroid carcinoma, NBNR |
FTC (n=30) |
Revealed the benign characteristics and the similarity between three follicular-patterned thyroid carcinomas (miFTC, FA, and EFVPTC) at the molecular level |
Siraj et al. (2016) [20] |
PTC (n=886) |
Saudi Arabia (Middle Eastern) |
Identified an association between TG alterations and tumor aggressiveness in PTC |
Lu et al. (2017) [19] |
PTC (n=138) |
China (East Asian) |
Identified novel fusion gene arrangements (UEVLD-RET, OSBPL9-BRAF, and SQSTM1-NTRK3) in PTC |
Jung et al. (2016) [35] |
FA (n=14) |
Korea (East Asian) |
Revealed the molecular similarity between FTC and FA by analysis of evolutionary age of tumors |
FTC (n=13) |