It can be difficult to biopsy tissue from pancreatic neuroendocrine tumors (PNETs) for genomic profiling. Deep in the abdomen, the pancreas is surrounded by vital organs, major veins, and arteries, making it tough and risky to reach. This disease often spreads to the liver, but there are risks, such as bleeding and infection, with biopsies of this organ as well. To help create safe and non-invasive tests for genomic mutations before, during, and after treatment in PNET patients, NETRF is funding researchers that are testing a novel alternative known as a “liquid biopsy.”
Using blood, not tissue, in PNET genomic profiling
A new pilot study led by Nitya Raj, M.D., Diane Reidy-Lagunes, M.D., and colleagues at Memorial Sloan Kettering Cancer Center (MSKCC) in New York will determine whether genomic profiling tests using blood samples are as accurate as those using tissue samples.
The team will compare the sensitivity and specificity of the two types of DNA tests. Ten patients with metastatic PNETs, who have had their tissue biopsies analyzed for DNA mutations in the last year, will undergo a second round of genomic testing, this time using a blood sample. Researchers will then compare the accuracy of the blood sample with the “gold standard” results from the tissue sample.
Exploring faster, safer, easier alternatives to tissue biopsy
According to Dr. Raj, the liquid biopsy might open up an easier and safer way to look for treatable genomic alterations. It may also offer a way to monitor any evolution of mutations in tumors.
Results from genomic testing can reveal mutations that can be targeted with approved or investigational therapies. Such testing can also detect signs that a tumor has developed a resistance to therapy.
While tumor tissue samples have served as the mainstay for genomic profiling, researchers have discovered that tumors shed cell-free DNA into the bloodstream. The platform Dr. Raj is testing, MSK-IMPACTTM, has the capacity to evaluate tumor DNA circulating in the blood for mutations in 468 genes.
Cultivating a wider NET research community
As part of its focused effort to find cures for NETs, NETRF aggressively recruits new researchers to the cause. Dr. Raj learned about NETRF’s research grants from her co-principal investigator and mentor, Dr. Reidy-Lagunes, who was first awarded a NETRF research grant in 2009.
“We are very excited to welcome Dr. Raj to our group of distinguished researchers, with this pivotal pilot study. Dr. Raj’s work investigates the potential to bring liquid biopsy into the care of PNET patients, allowing clinicians to non-invasively study the genetic evolution (how mutations accumulate over time, often affecting response to treatment) of this cancer, which will ultimately personalize care for patients”, said Effie Tzameli, Ph.D., NETRF Director of Research. “Having studied under another one of our funded researchers, Dr. Raj symbolizes a second generation of exceptional talent committed to helping us find a cure.”