EIF1AX

Pathology

 mutations in thyroid carcinomas

• The EIF1AX gene mutations have been recently found in papillary thyroid carcinoma (PTC) and anaplastic thyroid carcinoma (ATC).
• EIF1AX mutations occur not only in thyroid carcinomas, but also in benign nodules.
• The most common mutation hotspot is the A113_splice, followed by a cluster of mutations in exon 2.
• When found in thyroid FNA samples, EIF1AX mutations confer 20% risk of cancer; the risk is likely to be higher in nodules carrying a A113_splice mutation and when EIF1AX co-exists with RAS mutations.

• mutations in melanocytic tumors
• EIF1AX mutations occur in primary leptomeningeal melanocytic neoplasms; yet another similarity to uveal melanomas. (26769193)

Open references

• SF3B1 and EIF1AX mutations occur in primary leptomeningeal melanocytic neoplasms; yet another similarity to uveal melanomas. Küsters-Vandevelde HV, Creytens D, van Engen-van Grunsven AC, Jeunink M, Winnepenninckx V, Groenen PJ, Küsters B, Wesseling P, Blokx WA, Prinsen CF. Acta Neuropathol Commun. 2016 Jan 15;4:5. doi : 10.1186/s40478-016-0272-0 PMID: 26769193 (Free)

References

 Prevalence and phenotypic characteristics of EIF1AX mutations in thyroid nodules.
Karunamurthy A, Panebianco F, Hsiao S, Vorhauer J, Nikiforova M, Chiosea SI, Nikiforov Y. Endocr Relat Cancer. 2016 Feb 24. PMID: 26911375