Molecular Testing for Thyroid Cancer Diagnosis

Test Performance

The National Comprehensive Cancer Network recommends ThyroSeq v3 for its superior performance in ruling in and ruling out malignancy, with high sensitivity (92.9%) and specificity (69.3%) for detecting Hürthle cell cancers 1, 2
ThyroSeq v3 analyzes 112 genes for various genetic alterations, demonstrating superior sensitivity and specificity for detecting Hürthle cell cancers, and has been validated in both tissue samples and FNA samples with known surgical follow-up 1, 2
Afirma GSC shows improved performance over the older Afirma Gene Expression Classifier, with dedicated classifiers to differentiate Hürthle cell specimens, and demonstrates 88.9% sensitivity for detecting Hürthle cell malignancies and 58.8% specificity for identifying benign Hürthle lesions 1, 2

Historically, molecular diagnostics have performed poorly for Hürthle cell neoplasms, with high false-positive rates for malignancy, but newer versions of tests have shown improvement, particularly ThyroSeq v3 and Afirma GSC 1, 2, 3
Definitive diagnosis of Hürthle cell carcinoma requires histological evidence of capsular and/or vascular invasion, which can only be determined after surgical excision 3