Novel Test Improves Detection of Thyroid Cancer, Reduces Unnecessary Surgeries

A new test for genetic markers can distinguish between cancerous and benign lumps in the thyroid gland.

Although about 90% of thyroid gland nodules are benign, an ultrasound-guided biopsy of the suspicious tissue is nevertheless needed. “The test we had been using can distinguish between cancerous and benign nodules about 70% of the time, but that means the result is uncertain in nearly a third of cases,” explained Yuri Nikiforov, MD, PhD, professor of pathology at the University of Pittsburgh School of Medicine (Pittsburgh, PA, USA) and director of thyroid molecular diagnostics at the UPMC/UPCI Multidisciplinary Thyroid Center (MTC; Pittsburgh, PA, USA); “When that happens, the patient has to have the nodule surgically removed so that more extensive testing can be done. If it turns out to be cancerous, yet another operation might be needed to remove the entire thyroid gland.” Approximately 100,000 thyroid nodule biopsies done annually yield uncertain results and most of these patients undergo follow-up testing and diagnostic surgery even though the likelihood of having a cancer is very low, he noted.

The new test, “ThyroSeq”, was designed and developed by Dr. Prof. Nikiforov and his team using next-generation sequencing (NGS) technology. NGS allows pathologists to simultaneously test for multiple genetic markers using only a few cells collected from the nodule and at relatively low cost. The test detects mutations associated with thyroid cancer in nearly 300 sites of 12 genes in thyroid cells from biopsy. UPMC will be the first academic institution in the USA where NGS technology will be used to improve care for patients with thyroid nodules. "The next -generation sequencing test is very exciting, innovative, and promising because it’s designed to pick up a much higher percentage of cancers,” said MTC co-director Sally E. Carty, MD. Dr. Carty added that the new panel is the same price as the earlier one shown to be cost-effective in a 2012 study led by MTC expert Linwah Yip, MD.

Also, according to Dr. Prof. Nikiforov’s research, ThyroSeq findings suggest that certain gene alteration patterns may be associated with more aggressive cancers, so there is also potential to develop tailored treatment approaches for the specific kinds of tumors. “If we can distinguish aggressive thyroid cancers from cancers that are growing much more slowly and will not metastasize, we might be able to avoid surgery in these low-risk patients in favor of watchful waiting,” said MTC co-director Steven Hodak, MD. “That's really the Holy Grail – finding patients both with and without thyroid cancer for whom surgery is unnecessary and not putting them through the expense and risk of surgeries they don't need.”

Related Links:
University of Pittsburgh School of Medicine
UPMC/UPCI Multidisciplinary Thyroid Center (MTC)