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Related Experiment Video

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An Ex vivo Culture System to Study Thyroid Development
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Ancillary Studies in Thyroid Cytopathology.

N Paul Ohori1, Karen E Schoedel1

  • 1Department of Pathology, University of Pittsburgh Medical Center-Presbyterian, A610, 200 Lothrop Street, Pittsburgh, PA 15213, USA.

Surgical Pathology Clinics
|February 4, 2016
PubMed
Summary

Molecular testing aids in classifying indeterminate thyroid nodules diagnosed via the Bethesda System for Reporting Thyroid Cytopathology (BSRTC). These tests help stratify risk, improving diagnostic accuracy for thyroid nodules.

Keywords:
AfirmaBRAFMolecular pathologyNeoplasmPAX8/PPARγRASRET/PTCThyroidVeracyte

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Area of Science:

  • Endocrinology and Pathology
  • Molecular Diagnostics

Background:

  • Advances in thyroid nodule diagnostics include imaging, clinical evaluation, cytopathology, surgical pathology, and molecular methods.
  • The Bethesda System for Reporting Thyroid Cytopathology (BSRTC) standardizes reporting and integrates with molecular testing.

Purpose of the Study:

  • To review the role of molecular diagnostics in improving the understanding and management of thyroid nodules.
  • To discuss how molecular testing stratifies indeterminate BSRTC diagnoses and impacts clinical practice.

Main Methods:

  • Review of current literature on thyroid nodule diagnostics, focusing on molecular strategies.
  • Discussion of the application of molecular panels for genetic alterations and gene expression classifiers.
  • Consideration of next-generation sequencing (NGS) in thyroid cytopathology.

Main Results:

  • Molecular panels of common genetic alterations effectively stratify indeterminate BSRTC diagnoses into low-risk and high-risk groups.
  • These panels demonstrate high positive predictive value, serving as effective 'rule-in' tests.
  • The Afirma gene expression classifier shows high negative predictive value, functioning as a 'rule-out' test.

Conclusions:

  • Molecular diagnostics, particularly panels of genetic alterations, significantly enhance the diagnostic accuracy of indeterminate thyroid nodules.
  • The integration of molecular testing refines risk stratification and aids clinical decision-making for thyroid nodules.
  • Next-generation sequencing holds future promise for advancing thyroid cytopathology.