Mount Sinai’s use of its latest cutting-edge genomics techniques helped build upon the co-senior study author Dr. Andrew Arnold of UConn and his research team’s findings published in the New England Journal of Medicine in 2003 discovering the first gene in non-familial parathyroid cancer. Dr. Arnold’s team has a longstanding history of investigating the molecular genetic underpinnings of endocrine gland tumors, being the first to also discover cyclin D1 (PRAD1), a key regulator in multiple cancers including breast cancer, which turns out in the present study to be altered in parathyroid carcinoma as well.
“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,” says Dr. Arnold, the study’s co-leader who serves as the Murray-Heilig Chair in Molecular Medicine, Director of the Center for Molecular Medicine, and 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.”
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“As we generate and analyze large, multi-dimensional data sets from tumors, there is mounting evidence that cancer treatment may be more successful when based on specific genetic markers instead of tissue of origin,” said Eric Schadt, PhD, senior author on the paper and the Jean C. and James W. Crystal Professor of Genomics at the Icahn School of Medicine at Mount Sinai, and Founding Director of the Icahn Institute for Genomics and Multiscale Biology.
“Conventional wisdom tells us that the only way to treat rare disease is to invest billions of dollars in developing new therapies. This study shows that parathyroid carcinoma may be rare but its genetic mutations are not, indicating that patients may benefit right now from treatments that are already on the market.”
The study was supported by the fund from the Icahn Institute of Genomics and Multiscale Biology at Mount Sinai and the Murray-Heilig Fund in Molecular Medicine at UConn School of Medicine through the UConn Foundation.
Paper cited:
Chetanya Pandya et al. Genomic profiling reveals mutational landscape in parathyroid carcinomas. JCI Insight. 2017;2(6):e92061. https://doi.org/10.1172/jci.insight.92061 (CK DOI)
