RNA-based gene expression test potentially determine presence or absence of BRAF V600E mutation

Veracyte, Inc., a molecular diagnostics company pioneering the field of molecular cytology, today announced preliminary study results suggesting the potential for an RNA-based gene expression test to accurately detect the BRAF V600E gene mutation in thyroid nodule fine needle aspiration (FNA) samples. The findings were presented Thursday in a poster session at the 83^rd Annual Meeting of the American Thyroid Association (ATA), held in San Juan, Puerto Rico.

"The BRAF V600E mutation has generated a great deal of interest among clinicians, as its presence in a thyroid nodule malignancy may potentially help guide the extent of surgery needed or how aggressively to treat a malignancy," said Giulia C. Kennedy, Ph.D., chief scientific officer at Veracyte and lead author of the study. "Our preliminary findings are encouraging, suggesting that an RNA-based gene expression test can potentially determine the presence or absence of the BRAF V600E mutation with a high degree of accuracy in thyroid nodule FNA samples."

Veracyte researchers developed and assessed a preliminary RNA-based gene expression test on thyroid nodule FNA samples that were deemed by cytopathology as malignant, suspicious for malignancy or indeterminate. They found the gene expression test to be comparable in accuracy to DNA-based PCR testing in detecting the BRAF V600E mutation. Additionally, the researchers were able to extract more genomic material with the gene expression test, versus the DNA-based test, suggesting it could potentially enable better sample utilization and a lower rate of no results due to sample insufficiency.

"We believe these preliminary findings demonstrate a potential opportunity to enhance our Afirma® Thyroid FNA Analysis solution as a comprehensive way to manage thyroid nodules," said Bonnie Anderson, president and chief executive officer of Veracyte. "Specifically, these data suggest that we may be able to provide physicians with additional information pre-operatively that can help further guide their surgical strategy, when surgery is needed. This could potentially compliment our Gene Expression Classifier, which identifies benign thyroid nodule FNA samples among those deemed indeterminate by cytopathology and thus potentially enables these patients to avoid unnecessary surgery. We look forward to exploring this opportunity further."