Joshua Klopper, MD
Veracyte aims to empower clinicians with the high-value insights they need to guide and assure patients at pivotal moments in the race to diagnose and treat cancer. Recent enhancements to Afirma GSC have improved physicians’ ability to personalize such decision-making for their patients with thyroid nodules. Physicians now have the option to order DNA analysis of TERT, a critical molecular alteration associated with distant metastasis, extrathyroidal invasion, and vascular invasion in patients with thyroid cancer.1
The Diagnostic Role of TERT DNA Analysis
When physicians are faced with an indeterminate thyroid nodule, they increasingly choose molecular testing to provide an answer on whether the patient’s nodule is benign or if there are markers in the thyroid nodule that suggest cancer. To provide that diagnostic answer, physicians need the most comprehensive assessment possible. TERT variants are rare, especially in indeterminate nodules.2 But if a nodule does carry a TERT variant, there is a ~90% risk this indeterminate nodule is cancer and an increased risk of aggressive histology compared to thyroid cancers with wildtype TERT.1,3
The Prognostic Role of TERT DNA Analysis
Studies have shown that if a thyroid nodule carries one of these TERT variants alongside BRAFV600E, the risk of disease recurrence is higher.1 Data in a poster recently presented at AACE demonstrates that TERT variants appearing alongside BRAFV600E are also indicative of aggressive disease.3 Therefore, identifying these variants in thyroid nodules provides valuable prognostic information to help physicians confidently guide treatment decisions with their patients.
FNA Sample Collection / FNA Biopsy Process
In addition to developing a robust DNA assay to detect TERT, Veracyte is able to isolate DNA and RNA from the same FNA sample, meaning that the sample collection and submission process will not change for physicians or their patients. Physicians will still perform the same sample collection process they are currently using to send samples to Veracyte.
How to order TERT DNA Analysis
Ordering TERT DNA analysis is easy as well. The physician can simply check the box pertaining to the TERT promoter region in the “Test Order” section of the Afirma GSC test requisition form. In the event of a GSC Suspicious result or a Bethesda V or VI nodule, TERT DNA analysis will be performed and reported on the patient report just below the GSC results. Relevant prognostic information will be provided in this section, allowing for optimal personalized treatment decisions.
To learn more about implementing Afirma GSC, or to obtain a new test requisition form that includes TERT DNA Analysis, get in touch with a Veracyte Product Specialist using the form below.
References: 1. Liu & Xing, Endocr Relat Cancer, 2016. 2. Chiosea et al, Presented at American Thyroid Association 2021. 3. Klopper et al, Presented at American Association of Clinical Endocrinology 2023.