EIF1AX mutation in thyroid nodules: A histopathologic analysis of 56 cases in the context of institutional practices Journal Article
| Authors: | Abi-Raad, R.; Xu, B.; Gilani, S.; Ghossein, R. A.; Prasad, M. L. |
| Article Title: | EIF1AX mutation in thyroid nodules: A histopathologic analysis of 56 cases in the context of institutional practices |
| Abstract: | EIF1AX mutation has been identified as a driver mutation for papillary thyroid carcinoma (PTC) by The Cancer Genome Atlas (TCGA) study. Subsequent studies confirmed this mutation in PTC and Anaplastic Thyroid Carcinoma (ATC) but also reported EIF1AX mutation in Follicular nodular disease (FND) and benign thyroid nodules. In this study, we review thyroid nodules with EIF1AX mutation from two institutions: a tertiary care hospital (YNHH, n = 22) and a major cancer referral center (MSKCC, n = 34) and report the varying histomorphology in the context of additional genetic abnormalities and institutional practices. Pathology diagnoses were reviewed according to the WHO 5th edition and correlated with the type of EIF1AX mutation and additional concurrent molecular alterations, if any. Most cases were splice site type mutations. Cases consisted of 9 FND, 7 follicular (FA) or oncocytic adenomas (OA), 2 non-invasive follicular thyroid neoplasms with papillary-like nuclear features (NIFTP) and 38 follicular-cell derived thyroid carcinomas. Of 8 cases with isolated EIF1AX mutation, 7 were FND, FA or OA (88%) and one was an oncocytic carcinoma (12%). Of 12 cases with EIF1AX and one additional molecular alteration, 9 (75%) were FND, FA or OA, 2 (17%) were NIFTPs and one (8%) was a poorly differentiated thyroid carcinoma. All 36 cases with EIF1AX mutation and ≥2 molecular alterations were malignant (100%) and included TP53 and TERT promoter mutations associated with ATC (n = 8) and high-grade follicular cell-derived non-anaplastic carcinoma (HGC, n = 2). Isolated EIF1AX mutation was noted only in thyroid nodules seen at YNHH and were predominantly encountered in benign thyroid nodules including FND. Accumulation of additional genetic abnormalities appears to be progressively associated with malignant tumors. © The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature 2024. |
| Keywords: | adult; human tissue; aged; middle aged; unclassified drug; gene mutation; major clinical study; promoter region; single nucleotide polymorphism; exon; genetics; missense mutation; mutation; histopathology; prevalence; protein; pathology; protein p53; oncogene h ras; oncocytoma; carcinogenesis; tumorigenesis; cancer center; gene fusion; telomerase reverse transcriptase; thyroidectomy; thyroid neoplasms; genetic disorder; thyroid nodule; thyroid papillary carcinoma; thyroid tumor; adenocarcinoma, follicular; thyroid; thyroid surgery; follicular carcinoma; copy number variation; oncogene n ras; differentiated thyroid cancer; fine needle aspiration biopsy; poorly differentiated thyroid cancer; molecular alterations; high throughput sequencing; humans; human; male; female; article; tertiary care center; oncocytic carcinoma; eif1ax; eukaryotic peptide initiation factor-1a; initiation factor 1; eukaryotic initiation factor-1; follicular nodular disease; risk of malignancy (rom); eukaryotic translation initiation factor 1a x linked; angioinvasive follicular carcinoma; non-invasive follicular thyroid neoplasm; noninvasive follicular thyroid neoplasms with papillary like nuclear feature; thyroid lobe |
| Journal Title: | Virchows Archiv |
| Volume: | 485 |
| Issue: | 5 |
| ISSN: | 0945-6317 |
| Publisher: | Springer |
| Date Published: | 2024-11-01 |
| Start Page: | 859 |
| End Page: | 867 |
| Language: | English |
| DOI: | 10.1007/s00428-024-03914-5 |
| PUBMED: | 39225726 |
| PROVIDER: | scopus |
| PMCID: | PMC11912518 |
| DOI/URL: | |
| Notes: | The MSK Cancer Center Support Grant (P30 CA008748) is acknowledge in the PDF -- Source: Scopus |
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