New Research Presented at AACE 2024

The Veracyte team recently attended the AACE Annual Meeting in New Orleans, Louisiana, where we connected with leading endocrinologists from around the world. The meeting was productive and informative, with several compelling presentations on the latest research in endocrinology. We also had the privilege of contributing to the discussion with two posters presented at the meeting that were made possible through the Afirma® Genomic Sequencing Classifier (GSC), a Veracyte test that provides a clinically actionable Benign vs. Suspicious result, allowing physicians to conclusively rule out surgery for the majority of patients with an indeterminate thyroid nodule.¹

The first poster Veracyte presented at AACE analyzed the performance of radiofrequency ablation (RFA) on cytologically indeterminate nodules with Afirma GSC benign results:

 

Efficacy of Radiofrequency Ablation for Afirma Genomic Sequencing Classifier (GSC) Benign Indeterminate Thyroid Nodules



RFA is a minimally invasive method of treating benign thyroid nodules and this thermal ablation technique is typically used with cytologically benign nodules, rather than cytologically indeterminate nodules with benign molecular results.

This study demonstrated promising results when using RFA with cytologically indeterminate nodules with Afirma GSC benign results. The retrospective, multicenter, cohort study of 18 patients presented by Veracyte’s Medical Director of Endocrinology, Dr. Josh Klopper, showed that using RFA with such nodules resulted in a similar volume reduction as a historical cohort of cytologically benign nodules.1,2

An Afirma GSC benign result poses the same low risk of malignancy as a cytological benign result (≤4%), and RFA provides a minimally invasive way to treat cytologically benign nodules.1,2

Out of the 18 nodules, 13 were non-functional thyroid nodules (NFTNs) and 5 were autonomously functioning thyroid nodules (AFTNs). Ten out of the 13 NFTNs and 4 out of the 5 AFTNs had volume reduction of over 50%, and the initial post-RFA median volume reduction percentage (VRP) was 64% in all 18 samples.

This current study cohort was compared to a historical control cohort of 47 previously published cytologically benign nodules treated with RFA, 23 of which were NFTNs and 24 of which were AFTNs. These nodules showed an overall VRP of 69.2% over a median of 109 days, which was statistically the same as the current study cohort.

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The second poster, presented by Dr. Amir Harari of the Endocrinology Associates of Scottsdale, featured a very unique case of two hot spot TERT promoter mutations present in the same sample:

First Report of Pre-operative Detection of Two TERT Promoter Mutations Within a Papillary Thyroid Carcinoma



TERT, while rare, is associated with extrathyroidal extension, lymph node metastases, and vascular invasion.3,4 This study details the two described TERT promoter hotspot mutations present in the same cancer: C228T and 250T. While this has been reported in bladder cancer, melanomas, and gliomas, this is the first case of such an occurrence in thyroid cancer to our knowledge.

This novel finding in thyroid cancer comes on the heels of the recently published analytical validation
study of the Afirma TERT promoter mutation assay demonstrating the accuracy and consistency of the test.5 This is the only published analytical validation study dedicated to the TERT promoter mutation component of any commercially available thyroid tumor molecular test.

View Poster

 

Conclusion

We’re happy that Veracyte could contribute to the meaningful discussions held at AACE 2024 with research made possible through our Afirma GSC and Afirma GRID. If you’d like to learn about how Afirma is leveraging whole-transcriptome derived analysis to create the potential for novel research opportunities, fill out the form below, and someone from our team will be in touch with you shortly.

 

References:

  1. Patel KN, et al, JAMA Surg, 2018.
  2. Ahmadi and Kotwal et al., J Clin Endocrinol Metab. 2024 Feb 28:dgae112. doi:10.1210/clinem/dgae112.
  3. Liu & Xing, Endocr Relat Cancer, 2016.
  4. Chiosea et al, Presented at ATA 2021.
  5. Iyer PC, et al, JCEM, 2024.