ArticleThe Journal of clinical endocrinology and metabolism2024
Analytical Validation of a Telomerase Reverse Transcriptase (TERT) Promoter Mutation Assay.
Article in The Journal of clinical endocrinology and metabolism, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
What it found
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Who cites it
4 citing papers in PubMed, 4 citations in OpenAlex.
- Analysis of PLEKHS1 promoter mutation in preoperative thyroid nodule samples.Cancer cytopathology · 2026Article
- Preoperative Detection of Dual TERT Promoter Mutations in Thyroid Cancer: A Case Series.Diagnostic cytopathology · 2026Article
- Location based BRAF V600E mutation status and dimension patterns of sporadic thyroid nodules: a population-based study.BMC cancer · 2025Article
- Analytical Validation of a Telomerase Reverse Transcriptase (TERT) Promoter Mutation Assay.The Journal of clinical endocrinology and metabolism · 2024Article
Corrections and comments
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Authors and funding
12 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
contextTelomerase reverse transcriptase (TERT) promoter-mutated thyroid cancers are associated with a decreased rate of disease-free and disease-specific survival. High-quality analytical validation of a diagnostic test promotes confidence in the results that inform clinical decision-making.
objectiveThis work aimed to demonstrate the analytical validation of the Afirma TERT promoter mutation assay.
methodsTERT promoter C228T and C250T variant detection in genomic DNA (gDNA) was analyzed by assessing variable DNA input and the limit of detection (LOD) of variant allele frequency (VAF). The negative and positive percentage agreement (NPA and PPA) of the Afirma TERT test was examined against a reference primer pair as was the analytical specificity from potential interfering substances (RNA and blood gDNA). Further, the intrarun, interrun, and interlaboratory reproducibility of the assay were tested.
resultsThe Afirma TERT test is tolerant to variation in DNA input amount (7-13 ng) and can detect expected positive TERT promoter variants down to 5% VAF LOD at 7 ng DNA input with greater than 95% sensitivity. Both NPA and PPA were 100% against the reference primer pair. The test remains accurate in the presence of 20% RNA or 80% blood gDNA for an average patient sample that typically has 30% VAF. The test also demonstrated a 100% confirmation rate when compared with an external next-generation sequencing-based reference assay executed in a non-Veracyte laboratory.
conclusionThe analytical robustness and reproducibility of the Afirma TERT test support its routine clinical use among thyroid nodules with indeterminate cytology that are Afirma Genomic Sequencing Classifier suspicious or among Bethesda V/VI nodules.
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