Thyroid-Specific Transcription Factors and Their Roles in Thyroid Cancer

Table 1

Thyroid-specific transcription factors and thyroid cancers.

	Thyroid phenotype in null mice	Gene requirement	Expression in thyroid cancer	Common variants/Gene mutations for thyroid cancer predisposition	Other specifics
NKX2-1	Athyreosis	Proliferation and survival of thyroid follicular cells and C cells	Level correlates with the degree of differentiation	14q13.3: PTC, FTC	Gene mutation increases thyroid cell proliferation
				A339V: PTC	Lineage-specific oncogene amplified in lung cancer
PAX8	Athyreosis, rudimental thyroid remains	Proliferation and survival of thyroid follicular cells	Correlation between expression level and differentiation not clear	PAX8/PPARγ fusion protein: FTC	Expression found in cancers of other tissues such as kidney, Müllerian system, and ovary
FOXE1	Athyreosis or ectopia	Migration of thyroid primordium	Level correlates with the degree of differentiation	rs965513 on 9q22.33: PTC, FTC, radiation-induced PTC	LOH at D9S180 on 9q22.3: frequently found in skin SCC
				rs1867277; (−283G > A): PTC	16 Ala variant: associated with SCC

PTC: papillary thyroid carcinoma, FTC: follicular thyroid carcinoma, SCC: squamous cell carcinoma, and LOH: loss of heterozygosity.