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Diagnosis of Von Hippel-Lindau Syndrome Via Pancreatic Cyst Fluid Next-Generation Sequencing

Haider et al. ACG Case Rep J 2026;13:e01990

Characterizing Biological Behavior Beyond Morphologic Features: Next-Generation Sequencing Analysis of Large vs Small Pancreatic Cystic Lesions in a Large Multicenter Cohort of Patients

Kannan et al. J Am Coll Surg 2026;242:539–548.

Integrated cytologic, biochemical, imaging, and molecular analysis of pancreatic cystic lesions using PancreaSeq: a retrospective study of 219 cases

Wang et al. J Am Soc Cytopathol. 2026 Mar 6:S2213-2945(26)00039-6

Molecular Analysis of Mixed-Type and Branch-Duct Intraductal Papillary Mucinous Neoplasms

Kannan et al. JAMA Surg 2026; 1;161(2):171-178

PancreaSeq Genomic Classifier (PancreaSeq GC) improves pancreatic cyst classification and detection of advance neoplasia: A multi-Institutional validation study.

Singhi et al. Annals of Surgical Oncology 2026;242:539–548

Clinical utility of incorporating next-generation sequencing results in the management algorithm of pancreatic cysts

Jones et al. Gastrointest Endos. 2025;102(2):223-232.

A Combined DNA/RNA-based Next-Generation Sequencing Platform to Improve the Classification of Pancreatic Cysts and Early Detection of Pancreatic Cancer Arising from Pancreatic Cysts

Nikiforova MN, Wald AI, Spagnolo DM, Melan MA, Grupillo M, et al. Ann Surg. 2023 May 22.

Prospective, Multi-Institutional, Real-Time Next-Generation Sequencing of Pancreatic Cyst Fluid Reveals Diverse Genomic Alterations That Improve the Clinical Management of Pancreatic Cysts

Paniccia A, Polanco PM, Boone BA, Wald AI, McGrath K, et al. Gastroenterology. 2023 Jan;164(1):117-133.e7.

Preoperative next-generation sequencing of pancreatic cyst fluid is highly accurate in cyst classification and detection of advanced neoplasia

Singhi AD, McGrath K, Brand RE, Khalid A, Zeh HJ, et al. Gut. 2018 Dec;67(12):2131-2141.

Integrating Molecular Analysis into the Pathologic Evaluation of Pancreatic Cysts

Bell PD, Singhi AD. Surg Pathol Clin. 2022 Sep;15(3):455-468.

The World Health Organization Reporting System for Pancreaticobiliary Cytopathology

Pitman MB, Centeno BA, Reid MD, Siddiqui MT, Layfield LJ, et al. Acta Cytol. 2023;67(3):304-320.

Early detection of pancreatic cancer using DNA-based molecular approaches

Singhi AD, Wood LD. Nat Rev Gastroenterol Hepatol. 2021 Jul;18(7):457-468.

Recurrent Rearrangements in PRKACA and PRKACB in Intraductal Oncocytic Papillary Neoplasms of the Pancreas and Bile Duct

Singhi AD, Wood LD, Parks E, Torbenson MS, Felsenstein, et al. Gastroenterology. 2020 Feb;158(3):573-582.e2.

Intraductal Papillary Mucinous Neoplasms Arise From Multiple Independent Clones, Each With Distinct Mutations

Fischer CG, Beleva Guthrie V, Braxton AM, Zheng L, Wang P, et al. Gastroenterology. 201 Oct;157(4):1123-1137.e22.

A multimodality test to guide the management of patients with a pancreatic cyst

Springer S, Masica DL, Dal Molin M, Douville C, Thoburn CJ, et al. Sci Transl Med. 2019 Jul 17;11(501):eaav4772.

American Gastroenterological Association guidelines are inaccurate in detecting pancreatic cysts with advanced neoplasia: a clinicopathologic study of 225 patients with supporting molecular data

Singhi AD, Zeh HJ, Brand RE, Nikiforova MN, Chennat JS, et al. Gastrointest Endosc. 2016 Jun;83(6):1107-1117.e2.

A combination of molecular markers and clinical features improve the classification of pancreatic cysts

Springer S, Wang Y, Dal Molin M, Masica DL, Jiao Y, et al. Gastroenterology. 2015 Nov;149(6):1501-10.

Preoperative GNAS and KRAS testing in the diagnosis of pancreatic mucinous cysts

Singhi AD, Nikiforova MN, Fasanella KE, McGrath KM, Pai RK, et al Clin Cancer Res. 2014 Aug 15;20(16):4381-9.

Targeted next-generation sequencing of cancer genes dissects the molecular profiles of intraductal papillary neoplasms of the pancreas

Amato E, Molin MD, Mafficini A, Yu J, Malleo G, et al. J Pathol. 2014 Jul;233(3):217-27.

Integration of KRAS testing in the diagnosis of pancreatic cystic lesions: a clinical experience of 618 pancreatic cysts

Nikiforova MN, Khalid A, Fasanella KE, McGrath KM, Brand RE, et al. Mod Pathol. 2013 Nov;26(11):1478-87.

Recurrent GNAS mutations define an unexpected pathway for pancreatic cyst development

Wu J, Matthaei H, Maitra A, Dal Molin M, Wood LD, et al. Sci Transl Med. 2011 Jul 20;3(92):92ra66.