March 23 (UPI) -- A multi-national team of researchers used genome sequencing to open the door to possible new therapy options for rare cancers and other diseases.
Scientists from the Icahn School of Medicine at Mount Sinai Hospital, the University of Connecticut School of Medicine and other global institutions conducted exome sequencing studies on tumors and matched normal samples from 17 patients with parathyroid carcinoma, an extremely rare form of cancer affecting the parathyroid glands behind the thyroid.
Patients with parathyroid carcinoma typically die from the disease's progressive metabolic complications including very high blood calcium, weakened bones and calcium-induced kidney damage if not cured early by surgery.
Researchers found several mutations in cancer-related genes including the CDC73 tumor suppressor, the PI3K/AKT/mToR pathway and the Wnt canonical pathway.
"This is the largest genomic sequencing study to date for this rare and deadly cancer, and we believe it serves as important validation for using this approach to uncover clinically relevant information in any number of neglected diseases," Rong Chen, assistant professor in the Department of Genetics and Genomic Sciences at Mount Sinai, said in a press release. "Genomic analysis is opening the doors to diseases that could never have been understood through traditional biomedical research because there simply aren't enough patients to observe."
The genetic mutations found in the study have also been found in other cancers and are being studied in ongoing basket trials, which are clinical trials focused on specific genetic mutations instead of the tissue where the cancer forms.
"I have been involved in the care of patients with advanced parathyroid carcinoma for well over two decades, and the lack of effective anti-tumor therapy has been terribly frustrating," said Dr. Andrew Arnold, chief of endocrinology at UConn School of Medicine. "Some of the tumor-specific genomic vulnerabilities we found turn out to be shared with much more common cancers, so drugs already being developed for other cancers may prove valuable in parathyroid cancer. This offers new hope for our patients, and serves as a model for approaching other rare and neglected diseases."