Related Experiment Video
Updated: Feb 22, 2026

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
EIF1AX Mutation in a Patient with Hürthle Cell Carcinoma
Michael C Topf1, Zi-Xuan Wang2, Kevin Furlong3
1Department of Otolaryngology-Head and Neck Surgery, Thomas Jefferson University, 925 Chestnut Street 6th Floor, Philadelphia, PA, 19107, USA. michael.topf@jefferson.edu.
Abstract:
The EIF1AX gene is a novel cancer gene that has been reported in the tumorigenesis of papillary thyroid carcinoma, follicular variant papillary thyroid carcinoma, and anaplastic thyroid carcinoma. A 71-year-old woman presented with a right thyroid mass, which was follicular neoplasm on cytology. The fine needle aspirate of the nodule was examined by next-generation sequencing and found to harbor EIF1AX and TP53 mutations. Right thyroid lobectomy was performed with final pathology showing Hürthle cell carcinoma with capsular and vascular invasion. We report an EIF1AX mutation in a patient found to have Hürthle cell carcinoma.

