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Prevalence and phenotypic correlations of EIF1AX mutations in thyroid nodules.
| Content Provider | Semantic Scholar |
|---|---|
| Author | Karunamurthy, Arivarasan Panebianco, Federica Hsiao, Susan J. Vorhauer, Jennie Nikiforova, Marina N. Chiosea, Simion Nikiforov, Yuri E. |
| Copyright Year | 2016 |
| Abstract | The EIF1AX gene mutations have been recently found in papillary thyroid carcinoma (PTC) and anaplastic thyroid carcinoma (ATC). The prevalence of these mutations in other types of thyroid cancers and benign nodules is unknown. In this study, we analyzed the occurrence of EIF1AX mutations in exons 2, 5, and 6 of the gene in a series of 266 thyroid tumors and hyperplastic nodules by either Sanger or next-generation sequencing (ThyroSeq v.2). In addition, 647 thyroid fine-needle aspiration (FNA) samples with indeterminate cytology were analyzed. Using surgically removed samples, EIF1AX mutations were detected in 3/86 (2.3%) PTC, 1/4 (25%) ATC, 0/53 follicular carcinomas, 0/12 medullary carcinomas, 2/27 (7.4%) follicular adenomas, and 1/80 (1.3%) hyperplastic nodules. Among five mutation-positive FNA samples with surgical follow-up, one nodule was PTC and others were benign follicular adenomas or hyperplastic nodules. Overall, among 33 mutations identified, A113_splice mutation at the intron 5/exon 6 splice site of EIF1AX was the most common. All four carcinomas harbored A113_splice mutation and three of them had one or more coexisting mutations, typically RAS All PTC carrying EIF1AX mutations were encapsulated follicular variants. In summary, this study shows that 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 coexists with RAS mutations. |
| Starting Page | 295 |
| Ending Page | 301 |
| Page Count | 7 |
| File Format | PDF HTM / HTML |
| Alternate Webpage(s) | https://erc.bioscientifica.com/downloadpdf/journals/erc/23/4/295.pdf |
| PubMed reference number | 26911375v1 |
| Alternate Webpage(s) | https://doi.org/10.1530/ERC-16-0043 |
| DOI | 10.1530/ERC-16-0043 |
| Journal | Endocrine-related cancer |
| Volume Number | 23 |
| Issue Number | 4 |
| Language | English |
| Access Restriction | Open |
| Subject Keyword | Adrenal Medulla Anaplastic thyroid carcinoma Biopolymer Sequencing Core needle biopsy EIF1AX gene Exons Fine needle aspiration biopsy Follicular adenoma Follicular thyroid carcinoma Genetic Hotspot Hyperplasia Introns Malignant Neoplasms Malignant neoplasm of thyroid Massively-Parallel Sequencing Medullary carcinoma Mutation Operative Surgical Procedures Papillary thyroid carcinoma Thyroid Neoplasm Thyroid Nodule |
| Content Type | Text |
| Resource Type | Article |
