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Endocrine Abstracts (2022) 84 PS2-08-74 | DOI: 10.1530/endoabs.84.PS2-08-74


1Institute of Endocrinology, Department of Molecular Endocrinology, Prague, Czech Republic; 2Institute of Endocrinology, Department of Molecular Endocrinology, Institute of Endocrinology, 11694 Prague, Czech Republic, Department of Molecular Endocrinology, Prague, Czech Republic; 3Institute of Endocrinology, Epartment of Molecular Endocrinology, Institute of Endocrinology, 11694 Prague, Czech Republic, Department of Molecular Endocrinology, Prague, Czech Republic; 42nd Faculty of Medicine, Charles University, Department of Nuclear Medicine and Endocrinology, Department of Nuclear Medicine and Endocrinology, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Department of Nuclear Medicine and Endocrinology, Prague 1, Czech Republic; 5Department of Otorhinolaryngology and Head and Neck Surgery, 1st Faculty of Medicine in Charles University and University Hospital Motol, Prague, Czech Republic, Motol University Hospital, Department of Otorhinolaryngology and Head and Neck Surgery, Prague, Czech Republic; 6Dept. of Etn, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Department of Ear, Nose and Throat, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Department of Ear, Nose and Throat, Prague, Czech Republic; 7Department of Surgery, 2nd Faculty of Medicine, Charles University and Motol University Hospital, Motol University Hospital, Department of Surgery, Prague, Czech Republic; 8Department of Pathology and Molecular Medicine, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Motol University Hospital, Department of Pathology and Molecular Medicine, Prague 5, Czech Republic; 9Department of Otorhinolaryngology and Head and Neck Surgery, 3rd Faculty of Medicine, Charles University in Prague, Royal Vinohrady Teaching Hospital, University Hospital Kralovske Vinohrady, Department of Otorhinolaryngology, Prague, Czech Republic; 10Department of Pathology, 3rd Faculty of Medicine, Charles University in Prague, Royal Vinohrady Teaching Hospital, University Hospital Kralovske Vinohrady, Department of Pathology, Prague, Czech Republic; 11Military University Hospital, Military University Hospital, Department of Otorhinolaryngology and Maxillofacial Surgery, Prague, Czech Republic; 12Military University Hospital, Military University Hospital, Department of Pathology, Prague, Czech Republic; 13Department of Molecular Endocrinology, Institute of Endocrinology, Institute of Endocrinology, 11694 Prague, Czech Republic, Department of Molecular Endocrinology, Prague, Czech Republic; 14Institute of Endocrinology, Institute of Endocrinology, 11694 Prague, Czech Republic, Department of Molecular Endocrinology, Praha 1, Czech Republic


Objectives: Variants in the EIF1AX gene have been reported in malignant as well as benign thyroid nodules and their clinical significance is still unclear due to their low prevalence. The aim of this study was to identify EIF1AX variants in a large cohort of different types of thyroid nodules and to correlate them with clinical and pathological data.

Methods: The study consisted of 904 thyroid nodule samples. The cohort included 577 papillary thyroid carcinomas (PTCs), 16 anaplastic thyroid carcinomas (ATCs), 8 poorly differentiated thyroid carcinomas (PDTCs), 18 follicular thyroid carcinomas (FTCs), 10 oncocytic carcinomas, 35 borderline lesions (e.g., follicular tumor of uncertain malignant potential - FT-UMP), 55 follicular thyroid adenomas (FTA) and 185 benign nodules. DNA isolated from fresh frozen thyroid tissues was used for preparation of libraries using the Nextera XT DNA Library Prep Kit (Illumina, USA) and analyzed using next-generation sequencing (MiSeq, Illumina, USA). Variants in the EIF1AX gene (exons 1, 2, 5, 6) were visualized in Integrative Genomics Viewer (Broad Institute, USA) and evaluated by VarSome platform (Saphetor SA, Switzerland).

Results: EIF1AX gene variants were detected in 18 of 904 thyroid samples (2%) - 2 ATCs, 3 PTCs, 2 FTCs, 2 FTAs, 2 FT-UMPs, 1 oncocytic adenoma and 6 other benign nodules. The most frequent EIF1AX A113_splice variant was found in 6 of 18 (33.3%) positive samples (1 ATC, 2 PTC, 1 FTA, 1 FT-UMP and 1 goiter). Variants in codon 9 (G9R, G9V, G9D) of EIF1AX gene were found in 3 benign nodules and 1 ATC, in which coexisted with variants of TERT, TP53 and NRAS genes. The coexistence of EIF1AX variants with mutations in other genes (5× TERT, 9× RAS – 4 × simultaneously) was found in a total of 10 of 18 cases, and often correlated with more aggressive disease. On the other side, 8 EIF1AX-positive samples which did not possess other driver mutations were benign nodules, FTAs or FT-UMPs.

Conclusion: In summary, EIF1AX gene variants were detected in 18 cases. In most cases, the EIF1AX variants co-occurred with known variants of other genes and were associated with more aggressive tumor behavior. In accordance with literature, distinct EIF1AX variants may be related to different types of thyroid tumors and extension of the positive cohort could provide more accurate insight into the understanding of this gene. Supported by AZV NU21-01-00448 and MH CR RVO 00023761.

Volume 84

44th Annual Meeting of the European Thyroid Association (ETA) 2022

Brussels, Belgium
10 Sep 2022 - 13 Sep 2022

European Thyroid Association 

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