EIF1AX Mutations in thyroid nodules and advanced thyroid carcinoma: a systematic review and meta-analysis
- 1Anatomic Pathology Unit, Department of Human Pathology in Adult and Developmental Age “Gaetano Barresi”, University of Messina, Messina, Italy
- 2Division of Anatomic Pathology and Histology, Fondazione Policlinico Universitario “Agostino Gemelli” IRCCS, Rome, Italy
- 3Division of Anatomic Pathology and Histology, Fondazione Policlinico Universitario “Agostino Gemelli” IRCCS, Università Cattolica del Sacro Cuore, Largo Francesco Vito 1, Rome, 00168 Italy
Abstract
EIF1AX alterations occur across benign, borderline, differentiated, and high-grade thyroid neoplasia, requiring contextual interpretation. PubMed/MEDLINE, Scopus, and Embase were searched through 6 May 2026; complementary genomic, citation, and supplementary-data searches continued through 19 July 2026. Analyses addressed prevalence in strict Bethesda III/IV nodules, tissue-verified outcomes in EIF1AX-positive Bethesda III/IV nodules, and prevalence in WHO- or Turin-defined poorly differentiated thyroid carcinoma (PDTC) and histology-defined anaplastic thyroid carcinoma (ATC) cohorts not molecularly preselected. Proportions were pooled with binomial-normal generalized linear mixed models; study intervals were exact Clopper-Pearson intervals and heterogeneity was τ² on the logit scale. Among 43 reports, 13 contributed to a primary estimate and 17 to a primary or sensitivity analysis. EIF1AX prevalence in three strict Bethesda III/IV cohorts was 4.75% (92/1935; 95% CI, 3.89%–5.80%; τ²=0.000). Malignant histology occurred in 50/117 tissue-verified nodules (40.77%; 95% CI, 24.59%–59.24%; τ²=0.413). Including noninvasive follicular thyroid neoplasm with papillary-like nuclear features (NIFTP)/borderline outcomes and compatible Desai and Connelly data yielded 64/124 (48.16%; 95% CI, 30.69%–66.10%; τ²=0.497). Prevalence was 6.15% in PDTC (11/136; 95% CI, 2.04%–17.12%; τ²=0.455) and 15.06% in ATC (25/162; 95% CI, 9.19%–23.70%; τ²=0.154). EIF1AX is uncommon in indeterminate cytology and is not a stand-alone rule-in marker. Interpretation requires variant class, co-alterations, assay, verification, and histologic context.
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BibTeX
@article{fiorentino2026eif1ax,
title = {{EIF1AX Mutations in thyroid nodules and advanced thyroid carcinoma: a systematic review and meta-analysis}},
author = {Vincenzo Fiorentino and Patrizia Straccia and Esther Diana Rossi},
journal = {Virchows Archiv},
year = {2026},
month = sep,
doi = {10.1007/s00428-026-04708-7},
url = {https://doi.org/10.1007/s00428-026-04708-7},
note = {CC BY 4.0},
}
RIS
TY - JOUR
TI - EIF1AX Mutations in thyroid nodules and advanced thyroid carcinoma: a systematic review and meta-analysis
AU - Vincenzo Fiorentino
AU - Patrizia Straccia
AU - Esther Diana Rossi
PY - 2026
DA - 2026/09/30
JO - Virchows Archiv
DO - 10.1007/s00428-026-04708-7
UR - https://doi.org/10.1007/s00428-026-04708-7
AB - EIF1AX alterations occur across benign, borderline, differentiated, and high-grade thyroid neoplasia, requiring contextual interpretation. PubMed/MEDLINE, Scopus, and Embase were searched through 6 May 2026; complementary genomic, citation, and supplementary-data searches continued through 19 July 2026. Analyses addressed prevalence in strict Bethesda III/IV nodules, tissue-verified outcomes in EIF1AX-positive Bethesda III/IV nodules, and prevalence in WHO- or Turin-defined poorly differentiated thyroid carcinoma (PDTC) and histology-defined anaplastic thyroid carcinoma (ATC) cohorts not molecularly preselected. Proportions were pooled with binomial-normal generalized linear mixed models; study intervals were exact Clopper-Pearson intervals and heterogeneity was τ² on the logit scale. Among 43 reports, 13 contributed to a primary estimate and 17 to a primary or sensitivity analysis. EIF1AX prevalence in three strict Bethesda III/IV cohorts was 4.75% (92/1935; 95% CI, 3.89%–5.80%; τ²=0.000). Malignant histology occurred in 50/117 tissue-verified nodules (40.77%; 95% CI, 24.59%–59.24%; τ²=0.413). Including noninvasive follicular thyroid neoplasm with papillary-like nuclear features (NIFTP)/borderline outcomes and compatible Desai and Connelly data yielded 64/124 (48.16%; 95% CI, 30.69%–66.10%; τ²=0.497). Prevalence was 6.15% in PDTC (11/136; 95% CI, 2.04%–17.12%; τ²=0.455) and 15.06% in ATC (25/162; 95% CI, 9.19%–23.70%; τ²=0.154). EIF1AX is uncommon in indeterminate cytology and is not a stand-alone rule-in marker. Interpretation requires variant class, co-alterations, assay, verification, and histologic context.
SN - 0945-6317
SN - 1432-2307
ER -