The value of molecular testing in the evaluation and management of patients with pancreatic cysts

Molecular testing aids in the work up and management of patients with pancreatic cysts. This study reports on the value of PancreaSeq® in the evaluation of pancreatic cyst aspirates.

PancreaSeq® testing at our institution was implemented June 1, 2022. Over a 7-month period (June 1, 2022 through December 31, 2022) 50 cyst aspirates of which 26 (52%) were non-diagnostic 4 (8%) negative 1 (2%) atypical, 17 (34%) suspicious for a mucinous cystic neoplasm (MCN) and 2 (4%) positive for a MCN on cytology were sent for testing.

KRAS/GNAS gene mutations were present in 15 non-diagnostic cases and 5 cases suspicious for an MCN. The type of cyst was interpreted as mucinous (IPMN) and the risk of progression to high grade dysplasia/adenocarcinoma as low. KRAS mutations were present in 8 non-diagnostic cases, 1 atypical case, 8 cases suspicious for a MCN and one case positive for an MCN; findings interpreted as a mucinous cyst (IPMN/MCN) with a low risk of progression. BRAF mutations were present in 2 cases; one suspicious and the second positive for an MCN; both interpreted as a mucinous cyst (IPMN) with a low risk of progression. One non-diagnostic case was positive for several gene mutations and copy number alterations; findings interpreted as a mucinous (IPMN) cyst with an elevated risk of progression. VHL mutations were present in 2 negative cases interpreted as serous cystadenomas. Two non-diagnostic, 2 negative and 2 cases suspicious for a MCN were negative for gene mutations.

Implementation of PancreaSeq® has led to improvements in clinical management of patients with pancreatic cysts.