Biomarkers and genetic markers in the diagnosis of cystic lesions of the pancreas
Gyimesi György
Surgical Medicine Division
Dr. Szijártó Attila
Sebészeti, Transzplantációs és Gasztroenterológiai Klinika, Dollinger terem
2026-10-30 13:00:00
Surgical, interventional treatment and transplantation in abdominal organs
Dr. Szijártó Attila
Dr. Hritz István
Dr. Dezsőfi-Gottl Antal
D. Gyökeres Tibor
Dr. Kóbori László
Dr. Gasztonyi Beáta
Dr. Sipos Ferenc
Over the past decade, an increasing number of studies have consistently demonstrated that cyst fluid glucose represents a reliable, inexpensive, and widely accessible biomarker with superior sensitivity compared with the traditionally used carcinoembryonic antigen (CEA). The results of the first part of this work confirm these observations by showing that intracystic glucose measurement provides markedly higher sensitivity for the identification of mucinous pancreatic cysts than CEA, while CEA retains higher specificity. The combined application of the two markers further enhanced diagnostic sensitivity, albeit at the expense of some loss in specificity. Although advanced endoscopic techniques such as confocal laser endomicroscopy and through-the-needle biopsy offer higher overall diagnostic accuracy, their limited availability, higher cost, and increased procedural risk restrict their use to specialized centers and selected cases. Given its favorable analytical characteristics, minimal sample volume requirement, low cost, and potential for point-of-care testing, intracystic glucose determination represents a practical adjunct to conventional cyst fluid analysis, especially in centers without access to advanced endoscopic or molecular diagnostic modalities.
In the second part of this work, the clinical contribution of KRAS and GNAS mutation analysis to the diagnostic work-up of pancreatic cystic lesions was evaluated in the context of conventional morphological and cyst fluid–based assessment. Although the sensitivity of these genetic alterations for identifying mucinous cysts was lower than that of the combined standard diagnostic approach, their very high specificity indicates that the presence of KRAS and/or GNAS mutations can provide strong supportive evidence for a mucinous origin in diagnostically uncertain cases. This may be of particular relevance when imaging, cytology, string sign, and biochemical markers yield discordant or equivocal results. From a practical perspective, molecular testing also offers technical advantages, as it can be performed from small-volume samples and is less influenced by high cyst fluid viscosity. However, the application of molecular testing is limited by its relatively high cost, the need for specialized laboratory infrastructure and expertise. Consequently, it should be considered a supplementary tool rather than a replacement for standard cyst fluid–based assessment strategies.
