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Targeted Next Generation Sequencing with ThyroSeq v2.1 for Indeterminate Thyroid Nodules in Clinical Practice
Delaware Medical Journal
|February 21, 2018
Summary
Patients with indeterminate thyroid nodules strongly prefer molecular testing over surgery. ThyroSeq v2.1 testing helped 64% of patients avoid diagnostic surgery by ruling out cancer.
Area of Science:
- Endocrinology
- Surgical Oncology
- Molecular Diagnostics
Background:
- Indeterminate thyroid nodules often require invasive procedures like diagnostic surgery or repeat fine needle aspiration.
- Molecular testing offers a less invasive alternative for evaluating thyroid nodule risk.
Purpose of the Study:
- To assess patient preference for molecular testing versus diagnostic surgery for indeterminate thyroid nodules.
- To evaluate the effectiveness of ThyroSeq v2.1 molecular testing in reducing diagnostic surgeries and ruling out cancer.
Main Methods:
- Retrospective review of 286 patients with indeterminate thyroid nodules undergoing ultrasound-guided fine needle aspiration.
- Analysis of ThyroSeq v2.1 molecular testing results and subsequent patient management decisions.
Main Results:
- 100% of patients with indeterminate nodules (Bethesda III or IV) elected molecular testing over surgery or repeat biopsy.
- Of 25 patients with ThyroSeq v2.1 results, 16 (64%) had no mutation and opted for active surveillance, avoiding diagnostic surgery.
- The prevalence of malignancy in indeterminate nodules was 19%.
Conclusions:
- Patients strongly prefer molecular testing for indeterminate thyroid nodules, avoiding diagnostic surgery.
- ThyroSeq v2.1 testing successfully identified mutation-negative nodules, enabling active surveillance and reducing unnecessary surgeries.
- Further research is needed to definitively establish the risk of malignancy in mutation-negative patients and refine "rule-in" testing capabilities.
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