Abstract
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.
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