Table 1. Summary 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) |
TCGA, The Cancer Genome Atlas; PTC, papillary thyroid carcinoma; BVL, BRAFV600E-like; RL, RAS-like; FA, follicular adenoma; FTC, follicular thyroid carcinoma; NBNR, non-BRAF-non-RAS; miFTC, minimally-invasive follicular thyroid carcinoma; EFVPTC, encapsulated follicular variant of papillary thyroid carcinoma.