PancreaSeq, a next-generation sequencing panel, can accurately classify pancreatic cysts as benign or potentially cancerous, according to research published in Gastroenterology.1

The 22-gene panel can classify pancreatic cysts as mucinous or non-mucinous with high sensitivity and specificity, according to researchers. 

“Based on the results of this study, molecular testing of pancreatic cysts is poised to enter international consensus guidelines for the diagnosis of pancreatic cysts and early detection of pancreatic cancer,” study author Aatur Singhi, MD, PhD, of the University of Pittsburgh Medical Center in Pennsylvania, said in statement.2 

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“Our hope is that PancreaSeq will not only improve early detection of pancreatic cancer but also avoid overtreatment and unnecessary surgery of non-cancerous cysts,” he added.

For their study, Dr Singhi and colleagues tested PancreaSeq in 1832 patients from 31 institutions.1 The researchers prospectively analyzed molecular markers in patients’ pancreatic cyst fluid and followed the patients over a 2-year period. 

Using KRAS and GNAS mutations, PancreaSeq identified mucinous cysts with 90% sensitivity and 100% specificity. 

When the researchers excluded low-level variants, the combination of MAPK/GNAS and TP53/SMAD4/CTNNB1/mTOR alterations identified advanced neoplasia with 89% sensitivity and 98% specificity. The positive predictive value was 97%, and the negative predictive value was 93%.

When used together, cytopathologic evaluation and PancreaSeq identified advanced neoplasia with 93% sensitivity and 95% specificity. The positive predictive value was 92%, and the negative predictive value was 95%.

The researchers noted that incorporating PancreaSeq testing into current guidelines increased the sensitivity for advanced neoplasia detection. 

When combined with American Gastroenterology Association guidelines, PancreaSeq increased the sensitivity of advanced neoplasia detection from 72% to 96%. When combined with the 2017 revised International Consensus Fukuoka guidelines, PancreaSeq increased the sensitivity from 86% to 98%. Specificity remained essentially the same in all groups, however.

PancreaSeq also performed well in detecting non-mucinous cysts and pancreatic neuroendocrine tumors (panNETs), particularly when combined with cytopathologic evaluation, according to the researchers.

For example, MEN1 alterations were associated with high specificity for panNETs (100%), but the sensitivity was only 27%. Sensitivity was improved to 68% with the inclusion of loss of heterozygosity for TP53, SMAD4, PTEN, and/or RNF43

When used together, cytopathologic evaluation and PancreaSeq identified panNETs with 97% sensitivity and 98% specificity. 

Disclosures: Some study authors declared affiliations with biotech, pharmaceutical, and/or device companies. Please see the original reference for a full list of disclosures.


1. Paniccia A, Polanco PM, Boone BA, et al. Prospective, multi-institutional, real-time next-generation sequencing of pancreatic cyst fluid reveals diverse genomic alterations that improve the clinical management of pancreatic cysts. Gastroenterology. Published online October 6, 2022. doi:10.1053/j.gastro.2022.09.028

2. Pitt-developed genetic test for pancreatic cancer outperforms current guidelines. News release. University of Pittsburgh Medical Center. Published October 5, 2022. Accessed October 11, 2022.

This article originally appeared on Cancer Therapy Advisor