Molecular analysis with pancreaseq® in evaluation and management of pancreatic cysts: A cohort of 28 patients

Area of Science:

• Gastroenterology
• Oncology
• Molecular Diagnostics

Background:

• Pancreatic cysts are common, with some having malignant potential.
• Accurate diagnosis is crucial for appropriate patient management and risk stratification.
• Cytologic analysis can be non-diagnostic, necessitating advanced diagnostic tools.

Purpose of the Study:

• To evaluate the utility of PancreaSeq®, a molecular testing panel, in the diagnosis and management of pancreatic cysts.
• To correlate molecular findings with cyst type and risk of progression.

Main Methods:

• PancreaSeq® molecular analysis was performed on 28 pancreatic cyst aspirates.
• Cyst aspirates were categorized based on cytology: non-diagnostic, negative, atypical, and positive for mucinous cystic neoplasm (MCN).
• Mutational analysis included genes such as KRAS, GNAS, TP53, and copy number alterations (e.g., RNF43).

Main Results:

• PancreaSeq® identified mutations in 10 non-diagnostic, 6 negative, 5 atypical, and 7 MCN cases.
• KRAS and GNAS mutations were frequently observed, often associated with intraductal papillary mucinous neoplasm (IPMN) or MCN with low risk of progression.
• High-risk mutations (e.g., KRAS and TP53) were identified in an atypical case, indicating a high risk of progression.

Conclusions:

• Molecular testing with PancreaSeq® significantly enhances the diagnostic accuracy of pancreatic cysts, particularly when cytology is inconclusive.
• The identification of specific mutations aids in classifying cyst type and assessing the risk of malignant transformation.
• PancreaSeq® is a valuable tool for improving patient management strategies for pancreatic cystic lesions.