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Molecular testing for indeterminate thyroid nodules: past, present, and future.

Rajam Raghunathan1, Stephanie Smooke Praw2, Masha Livhits1

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Molecular testing for indeterminate thyroid nodules improves accuracy and reduces unnecessary surgeries. Ongoing research aims to enhance test reliability and cost-effectiveness for better patient care.

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Area of Science:

  • Endocrinology
  • Oncology
  • Genetics

Background:

  • Indeterminate thyroid nodules (Bethesda III/IV) pose diagnostic challenges, often leading to unnecessary surgeries.
  • Molecular testing offers a less invasive approach to risk stratification.

Approach:

  • Review of current molecular testing platforms for thyroid nodules.
  • Analysis of diagnostic performance, including benign call rates and specificity.
  • Evaluation of challenges and future directions in molecular diagnostics.

Key Points:

  • Current genomic tests show improved diagnostic performance over previous versions.
  • Test selection should balance performance, malignancy rates, cytology, and prognostication.
  • Challenges include test reliability, surveillance duration, and performance in specific nodule types (oncocytic, NIFTP).

Conclusions:

  • Molecular testing reduces the need for diagnostic surgery, lowering costs and complications.
  • While performance has improved, further refinement in test scope and reliability is needed.
  • Integrated decision-making considers cytology, clinical features, patient preferences, and molecular results.