Foundation Medicine published new data today in the inaugural issue of JAMA Oncology. The peer-reviewed paper titled, “Comprehensive Genomic Profiling of Carcinoma of Unknown Primary Site Reveals New Routes to Targeted Therapies” details data from a retrospective study of 200 individuals diagnosed with cancer of unknown primary origin (CUP) in which FoundationOne® identified clinically relevant genomic alterations in 85 percent of the cases, many of which could be matched to approved targeted therapies or to investigational anti-cancer therapies currently in clinical trials.

What is CUP?

CUP is the clinical term used when metastatic cancer, or cancer that has spread throughout the body, is found, but the site where the cancer began cannot be determined. More than 30,000 patients in the United States each year, or between two and nine percent of all cancer patients, have a cancer whose primary site is never identified[i]. There are no drugs specifically approved for CUP, and patients are commonly treated with a non-targeted, multi-agent cytotoxic chemotherapy[ii] One- and five-year relative survival rates for patients average 23 percent and 10.6 percent[iii], respectively.

The cost of a complete diagnostic workup for patients with CUP, including multimodality diagnostic imaging procedures, tissue IHC panels, serum tumor marker panels and mRNA profiling, commonly exceeds $10,000. For many of these patients, even after a thorough workup, determining the primary tumor site may be impossible or uninformative, and treatment guided by knowing the primary site does not always improve outcomes or prognosis.

Today, CUP represents an area of critically high unmet medical need which Foundation Medicine aims to address by providing physicians with a comprehensive genomic profiling tool that may present otherwise unconsidered treatment options and potentially help improve outcomes for individuals living with CUP.

Informing Personalized Treatment Options

These data published in JAMA Oncology suggest that FoundationOne can often identify clinically relevant genomic alterations that may lead to a targeted therapy or clinical trial for patients with CUP. By utilizing a singular comprehensive approach, we have the potential to eliminate numerous costly and time-consuming diagnostic analyses, a topic of ongoing exploration at Foundation Medicine through retrospective analysis and prospective health economic studies. Additionally and perhaps most importantly, by identifying potential targeted therapeutic options that may be more effective and less toxic than standard therapies, we can bring new hope to individuals living with CUP.

Access the paper in JAMA Oncology here.