Genetic test accurately detects early pancreatic cancer

Volume 6, Issue 3, 2017


Biomarkers can potentially change the paradigm of clinical practice in patients with pancreatic cysts.

Photograph of Shounak Majumder, M.D.

Shounak Majumder, M.D.

Mayo Clinic researchers have found that a panel of methylated DNA markers in pancreatic cyst fluid can accurately detect advanced precancerous lesions and early cancer in pancreatic cysts.

Hypermethylation is a process thought to play a role in silencing of tumor suppressor genes, which are involved in controlling cell growth and division. Uncontrolled cell growth and division can lead to cancer development.

"Pancreatic cysts are common and are often detected incidentally," said Shounak Majumder, M.D., a Mayo Clinic gastroenterologist in Rochester, Minnesota. "The majority of these cysts are benign. However, a subset is premalignant, and the risk of pancreatic cancer in these patients is significantly higher than in the general population."

Radiological imaging and other methods to detect early pancreatic cancer or advanced precancer in pancreatic cysts often lack diagnostic accuracy, which can result in unnecessary surgery, Dr. Majumder said.

Dr. Majumder presented the results of a multicenter study of a panel of new DNA methylation markers assayed from the pancreatic cyst of 134 patients at the Digestive Disease Week 2017 meeting in Chicago.

"The detection accuracy of this panel of markers was significantly higher than currently available markers," Dr. Majumder said. "These cyst fluid biomarkers can potentially change the paradigm of clinical practice in patients with pancreatic cysts by accurately identifying cysts that harbor early cancer or advanced precancer that would benefit the most from surgery. This would lead to improved patient outcomes, both in terms of being able to detect cancer early and also avoiding potentially morbid surgical intervention in those who do not need it."

Based on the results of this study, Dr. Majumder, along with Mayo Clinic researchers David A. Ahlquist, M.D., Mark D. Topazian, M.D., and Gloria M. Petersen, Ph.D., will lead a prospective study funded by the National Institutes of Health to validate these new pancreatic cyst fluid markers. Additional research is also underway to identify methylated DNA markers in pancreatic juice, plasma and stool for early detection of pancreatic cancer.