Diagnostic utility of thyroid transcription factors Pax8 and TTF-2 (FoxE1
) in thyroid epithelial neoplasms.
The mutations of the FoxE1
gene can lead to thyroid abnormalities, cleft palate, and inner nostril atresia, with thinning hair and a phenotype with two epiglottis .
During the formation of the thyroid anlage (specification phase), the expression of thyroid transcription factors TITF1, PAX8, FOXE1
, and HEX1 can be observed.
Recent studies revealed novel transcription factors upregulating NIS transcription in a TSH dependent manner by specific interactions with hNUE; these were [beta]-catenin (49), forkhead transcription factor, FoxE1
(50), and hairy and enhancer of split-1, Hes-1 (51).
Transcription factors NKX2-1, FOXE1
, HHEX, and PAX8 are involved in cellular differentiation during embryogenesis.
Ghossein, "Diagnostic utility of thyroid transcription factors Pax8 and TTF-2 (FoxE1
) in thyroid epithelial neoplasms," Modern Pathology, vol.
However, the etiology of TD is still unclear but can be explained on a small scale by genetic mutations in 4 transcription factors (FOXE1
, NKX2.1 , PAX8 [7, 8], and NKX2.5 ) and at the thyrotrophin receptor , which are genes important in the development and normal function of the thyroid gland [11-13].
- TITF-1, TITF-2, PAX-8, HHEX [2,3,4] TITF-1 has a major activity in thyroid gland organogenesis and expression of genes specific for thyroid follicular cells in adult life; TITF-2 (FOXE1
) is obligatory for thyroid migration process (Mutation results in sublingual thyroid ectopia); PAX-8 is vital for thyroid cell precursors survival and their functional differentiation; HHEX mediates and sustains expression of TITF-1, TITF-2 and PAX-8 [3,4]
(1,3) Malfunctioning of the transcription factors TITF1/NKX2-1, PAX8, HHEX, and FOXE1
is highly related to ETT.
Dr Joost Louwagie (OncoMethylome Sciences, Liege, Belgium)  presented this first study that uses the methylation markers SYNE1 and FOXE1
to detect the presence of colorectal cancer.
"We optimised the methods of DNA extraction and methylation detection so that we could detect low levels of methylated genes in people with colorectal cance and we were able to find a high frequency of two newly reported methylation genes, SYNE1 and FOXE1
, in colorectal cancer patients.