Novel genetic tools may shed new light in papillary thyroid carcinoma research

University of Pittsburgh Medical CenterSep 24 2012

Next-generation sequencing analyses of the follicular variant of papillary thyroid carcinoma may elucidate the biological underpinnings and clinical behavior of an increasingly common disease, according to data presented at the 82nd ATA Annual Meeting in Québec City, Québec, Canada.

Papillary thyroid carcinoma, most common type of thyroid cancer, is the fastest growing cancer type in the United States and many other countries. The increase in incidence is largely attribute to a rise in the number of cases of follicular variant of papillary thyroid carcinoma. The follicular variant of papillary thyroid carcinoma is believed to behave in a clinical manner similar to usual or classical papillary cancer, but can be aggressive.RAS mutations are present in approximately 40% of follicular variant of papillary thyroid carcinomas, but little else is know about other mutations associated with the disease.

"A lack of understanding of molecular drivers of the follicular variant of papillary thyroid carcinoma greatly limits the ability to investigate reasons behind its increased incidence and hampers the development of more individualized management of patients," said Elizabeth Pearce, MD, of the Boston Medical Center and Program Co-Chair of the ATA annual meeting. "These new data suggest that novel genetic tools may shed new light in this important research area."

A team of researchers led by Lindsey Kelly, MD, at the University of Pittsburgh Medical Center, analyzed 501 samples of papillary thyroid carcinoma using a panel of next-generation sequencing tools. They found that 73% were positive for known mutations and 27% were negative for known mutations. The majority of the latter were determined to be follicular variant of papillary thyroid carcinoma. Further analyses of follicular variant of papillary thyroid carcinoma tumors revealed TPM3/NTRK1 fusion with a novel breakpoint, as well as several promising SNVs and SVs. These findings may allow better characterization of the biology and clinical behavior of follicular variant of papillary thyroid carcinoma.