Performance of a Multigene Genomic Classifier in Thyroid Nodules With Indeterminate Cytology: A Prospective Blinded...

Area of Science:

• Endocrinology
• Oncology
• Molecular Diagnostics

Background:

• Approximately 20% of thyroid fine-needle aspirations (FNA) yield indeterminate cytology (Bethesda III or IV).
• Diagnostic surgery is often pursued for these nodules to rule out malignancy, leading to overtreatment of benign cases.

Purpose of the Study:

• To evaluate the diagnostic accuracy of the ThyroSeq v3 multigene classifier (GC) test.
• To determine if this molecular test can reliably identify benign nodules and avoid unnecessary diagnostic surgeries.

Main Methods:

• A prospective, blinded, multicenter cohort study enrolled 256 patients with 286 cytologically indeterminate thyroid nodules.
• Thyroid nodule FNA samples underwent molecular analysis using the ThyroSeq v3 multigene GC test.

Main Results:

• The multigene GC test showed 94% sensitivity and 82% specificity for Bethesda III and IV nodules.
• The negative predictive value (NPV) was 97%, indicating high confidence in benign diagnoses.
• The test could potentially obviate diagnostic surgery in up to 61% of patients with indeterminate nodules.

Conclusions:

• The ThyroSeq v3 multigene GC test demonstrates high accuracy for indeterminate thyroid nodules.
• This molecular diagnostic approach may significantly reduce the need for diagnostic surgeries.
• Genetic alterations identified by the test can inform individualized patient treatment strategies.