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Thyroid Cancer Polygenic Risk Score Improves Classification of Thyroid Nodules as Benign or Malignant.

Nikita Pozdeyev1,2,3, Manjiri Dighe4, Martin Barrio5

  • 1Department of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.

The Journal of Clinical Endocrinology and Metabolism
|September 8, 2023
PubMed
Summary

Combining genetic risk scores with ultrasound improves thyroid nodule diagnosis. This new approach enhances accuracy in identifying malignant thyroid nodules, offering a more precise risk assessment for patients.

Keywords:
artificial intelligencedeep learningpolygenic risk scorethyroid cancerthyroid noduleultrasound

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Area of Science:

  • Genomics
  • Medical Imaging
  • Oncology

Background:

  • Current thyroid nodule risk assessment relies on ultrasound features, but some malignant nodules appear benign.
  • There is a need for improved methods to accurately assess thyroid nodule risk.

Purpose of the Study:

  • To investigate the combination of polygenic risk score (PRS) for inherited thyroid cancer risk with ultrasound analysis.
  • To enhance the accuracy of thyroid nodule risk assessment by integrating genetic and imaging data.

Main Methods:

  • A convolutional neural network classifier was trained on thyroid ultrasound images and clips.
  • Phenome-wide association studies (PheWAS) were used to optimize PRS for distinguishing benign from malignant nodules.
  • The PRS was evaluated in a large biobank cohort (73,346 participants).

Main Results:

  • Combining deep learning ultrasound analysis with thyroid cancer PRS and genetic ancestry improved the classifier's area under the receiver operating characteristic curve (AUROC) from 0.83 to 0.89.
  • The integrated classifier achieved high sensitivity (0.95) and negative predictive value (0.97).
  • Elevated PRS was linked to increased risk of thyroid cancer structural disease recurrence.

Conclusions:

  • Integrating polygenic risk scores with ultrasound-based assessments significantly improves diagnostic accuracy for thyroid nodules.
  • This combined approach offers a more robust method for risk stratification and potentially better patient management.