Using Next-Gen Sequencing to Detect Asymptomatic Pancreatic Cancer

Researchers at the University of Pittsburgh Medical Center (UPMC) have developed a genetic test that can help identify pancreatic cancer, even when a patient experiences no obvious symptoms of disease. The details of the PancreaSeq – which uses next-generation sequencing – were published in the journal, Gut.

The American Cancer Society estimates that over 53,600 individuals will be diagnosed with pancreatic cancer in 2017 alone. While pancreatic cancer makes up a relatively small percentage of all cancers, it has one of the lowest five-year survival rates of 12 percent for patients diagnosed with early-stage disease.

Routine medical scans can help detect pancreatic cysts that would otherwise go unnoticed. While most pancreatic cysts are benign, physicians are charged with determining if the mass is precancerous, and whether it should be surgically removed.

“On the one hand, you never want to subject a patient to unneeded surgery,” said Dr. Aatur D. Singhi, a surgical pathologist in the UPMC Division of Anatomic Pathology. “But survival rates for pancreatic cancer are much better if it is caught before symptoms arise, so you also don’t want to ignore an early warning sign. This rapid, sensitive test will be useful in guiding physicians on which patients would most benefit from surgery.”

While the genetic makeup of pancreatic cysts has historically been analyzed post-surgery, the PancreaSeq test allows doctors to prospectively test the mass. The tool uses a fluid sample collected from the cyst to run a panel of 10 pancreatic cancer-associated genes.

In all, 595 patient samples were tested using the PancreaSeq tool. Current guidelines were used to inform doctors’ decisions regarding whether the pancreatic cysts should be surgically removed.

Just over 100 of these patients underwent pancreatic cyst removal surgery, and the PancreaSeq showed 100 percent accuracy at identify those patients whose tumors were likely to progress to pancreatic cancer. This test also did not return any false positives, suggesting it could be highly specific at identify precursors to pancreatic cancer.

Not only was the study the first to use next-generation sequencing to analyze patient samples, but the work was also performed in an accredited clinical laboratory. Most work of this nature begins in a research setting, requiring further validation of the tool if results are promising. According to Singhi, this was a key decision which could help support the use of the test in a real-world setting.

“This was important to us,” said Singhi. “If PancreaSeq is going to be used to make clinical decisions, then it needed to be evaluated in a clinical setting in real time, with all the pressures that go with a clinical diagnosis.”

PancreaSeq is still be offered to patients through UPMC, however it is not yet part of any clinical guidelines for assessing pancreatic cysts. Singhi and his team are currently working on expanding the test to include additional genetic markers and further demonstrate its efficacy in a clinical setting.