Abu-Khudir R, Paquette J, Lefort A, Libert F, Chanoine JP, Vassart G, Deladoëy J. Transcriptome, Methylome and Genomic Variations Analysis of Ectopic Thyroid Glands. PLoS ONE 2010; 5(10): e13420

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We showed that 19 genes were exclusively associated with thyroid ectopy, among which genes involved in embryonic development (e.g. TXNIP) and in the Wnt pathway (e.g. SFRP2 and FRZB) were observed. None of the thyroid related transcription factors (FOXE1, HHEX, NKX2.1, NKX2.5) showed decreased expression, whereas PAX8 expression was associated with thyroid activation state. Finally, the expression profile was independent of promoter and CpG island methylation and of structural genome variations.

This is the first integrative molecular analysis of ectopic thyroid tissue. Ectopic thyroids show a differential gene expression compared to that of normal thyroids, although molecular basis could not be defined. Replication of this pilot study on a larger cohort could lead to unraveling the elusive cause of defective thyroid migration during embryogenesis.