Thyroid disease

Afirma genomic sequencing classifier performance in young patients with cytologically indeterminate thyroid nodules

J Clin Endocrinol MetabPublished Diagnostic accuracy study

Authors' conclusion

In young patients with ITNs, the Afirma GSC demonstrated an excellent negative predictive value when defining a thyroid nodule result by histology or clinical follow-up.

Study context

Population
Patients <21 years (aged 9 to 20 years) with cytologically indeterminate thyroid nodules referred for molecular testing, with histopathology or 2 years' clinical follow-up
Participants
49 indeterminate thyroid nodules (ITNs)
Outcome
Afirma GSC test performance
Methodological detailsretrospective, real-world setting
  • Retrospective
  • Real-world setting

Performance

As reported in the abstract

Test or modelSensitivitySpecificityNPV
Afirma Genomic Sequencing Classifier (GSC)100% [95% CI, 77-100]86% [95% CI, 70-95]100% [95% CI, 88-100]

Afirma Genomic Sequencing Classifier (GSC)

Sensitivity100% [95% CI, 77-100]
Specificity86% [95% CI, 70-95]
NPV100% [95% CI, 88-100]
GSC-B results
30
GSC-S results
19
GSC-S malignant (true positive)
14 (73.7%)
GSC-S benign (false positive)
5 (26.3%)
GSC-B cases benign (true negative): histologically / clinically
9 / 21

Further findings

Genomic alterations in GSC-B samples

Genomic alterations were not detected in the 30 GSC-B samples
0

Histology of 14 malignant samples

PTC
9
Oncocytic carcinoma
1
Noninvasive follicular thyroid neoplasm with papillary-like nuclear features
1
FTC
3

Original publication

Afirma genomic sequencing classifier performance in young patients with cytologically indeterminate thyroid nodules. J Clin Endocrinol Metab. Published 12 February 2026. doi:10.1210/clinem/dgag059

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