On March 25, 2019 Veracyte, Inc. (Nasdaq: VCYT) reported that new data from the Afirma Xpression Atlas suggest that the majority of newly diagnosed medullary thyroid cancers (MTC) are associated with variants from three genes (Press release, Veracyte, MAR 25, 2019, View Source [SID1234534592]). The findings shed new light on the genomic underpinning of this rare, but aggressive, form of thyroid cancer and were presented today at ENDO 2019, the Endocrine Society’s annual meeting, which is being held March 23-26 in New Orleans.

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"Our findings are important because they help us better understand the genomic drivers of medullary thyroid cancer," said Steven G. Waguespack, M.D., professor of internal medicine and pediatrics at University of Texas MD Anderson Cancer Center in Houston, who presented the new data in a guided poster session. "Moreover, this information, derived from a fine needle aspiration biopsy specimen, may help guide physicians in the preoperative evaluation, surgical planning and targeted therapy selection for patients diagnosed with this disease."

For the study, researchers evaluated 77 preoperative fine needle aspiration biopsies from thyroid nodules that were positive for MTC based on Afirma testing and which spanned a range of Bethesda System cytology classification categories (III-VI). All cases were subsequently evaluated with the Xpression Atlas, which uses RNA whole-transcriptome sequencing to detect 761 variants and 130 fusions in 511 genes that are associated with thyroid cancer. The scientists found that among the MTC cases, 55.8 percent harbored a RET variant, 9.1 percent included a KRAS variant, 7.8 percent contained an HRAS variant (some of which contained more than one of these gene alterations), while 2.6 percent of cases possessed fusions and 26.0 percent included no gene variants or fusions.

"As more is understood about the genomic makeup of thyroid cancer biology, physicians may be able to further refine their treatment plans for patients using ever-more-granular genomic information," said Giulia C. Kennedy, Ph.D., chief medical and scientific officer at Veracyte. "We believe that our Afirma offering – based on our whole-transcriptome sequencing platform – is well-positioned to serve the needs of physicians in the expanding era of precision medicine."