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PRELIMINARY RESULTS OF THE PROPH-ITA STUDY: GENETIC BACKGROUND OF FAMILIAL PANCREATIC CANCER (FPC) PATIENTS ENROLLED IN THE ITALIAN REGISTRY OF FAMILIES AT RISK FOR PANCREATIC CANCER (IRFARPC)

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Introduction

The Italian Registry of Families at Risk for Pancreatic Cancer(IRFARPC) is a surveillance program that enrolls individuals at increased risk (HRIs) as either mutation carriers(MC) of a pathogenic variant(PV) of a susceptibility gene or familial pancreatic cancer (FPC) individuals based on family history. It has been reported that FPC patients carry a lower risk of PC compared to MC, but their genetic background is often poorly evaluated.Nonetheless FPC represent the larger part of subjects enrolled in surveillance protocols. In addition, PC predisposing genetic backgrounds can be shared with other malignant tumors that require a tailored surveillance program.

Aims & Methods

Our aim was to evaluate the prevalence of PV or variants of uncertain significance (VUS), in patients enrolled in IRFARPC. FPC patients enrolled in the IRFARPC registry at three forerunner centers (Verona, Milano, Rozzano) underwent buccal swabs in the context of the “PROPH-ITA” study funded by Italian Patients’ Advocacy Groups (“Fondazione Nadia Valsecchi”, “Associazione Oltre la Ricerca” and other individual initiatives), with germline evaluation of a panel of 41 genes. Genomic DNA was isolated from the biological samples for Whole Exon Sequencing. Considering scientific literature data and the main mutation databases, mutations defined as PV or VUS were reported in the genetic report, and subjects with a positive test were offered a genetic consultation.

Results

From December 2022 up to February 2024, a total of 270 FPC candidates participating to the IRFARPC were recruited and underwent buccal swab and genetic testing, of whom eighteen (6.6%) found carrying one or multiple PV: 6 CFTR, 5 ATM, 3 MUTYH, 1 CTRC, 1 TET2, 1 BRCA2, 1 PALB2. Ninety (33.3%) patients carried one or multiple VUS, mostly in the CFTR, APC, and ATM genes. All these one-hundred-eight patients (40%) accepted genetic counselling.

Conclusion

Genetic profiling of FPC patients in the context of the IRFARPC screening protocol retrieved a relatively small, yet not negligible, number of patients carrying a previously unknown PV and a large rate of VUS. Further studies are needed to elucidate the relevance of VUS in this context and the association between mutational status and pancreatic and extrapancreatic findings during surveillance.In 2024, the PROPH-ITA study will be open to all IRFARPC centers.

PRELIMINARY RESULTS OF THE PROPH-ITA STUDY: GENETIC BACKGROUND OF FAMILIAL PANCREATIC CANCER (FPC) PATIENTS ENROLLED IN THE ITALIAN REGISTRY OF FAMILIES AT RISK FOR PANCREATIC CANCER (IRFARPC)

Livia Archibugi 1, Fabio Casciani 2, Silvia Carrara 3, erica secchettin 2, Massimo Falconi 4, Salvatore Paiella 5, Gabriele Capurso 6

1 Hospital San Raffaele, Milan, Italy

2 University of Verona Hospital Trust, Verona, Italy

3 Istituto Clinico Humanitas, Milano, Italy

4 Università Vita-Salute San Raffaele, San Raffaele, Italy

5 Pancreas Institute, University of Verona, Verona, Italy

6 San Raffaele Scientific Institute Irccs, Rome, Italy

Event

UEG Week Vienna 2024

Topics

Digestive Oncology Mechanisms & Personalised Medicine Pancreas

Submission format

Abstract

Session

Pancreatic cancer: From bench to bedside

Citation

United European Gastroenterology Journal 2024; 12 (Supplement 8)

Published

2024

UEG Podcast Episode

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Raising pancreatic superstars: from mice to knives

Egle Dieninyte - Misiune 1, Johanna Laukkarinen 2, Alberto Balduzzi 3

1 Center of hepatology, gastroenterology and dietetics, Vilnius university Santaros Klinikos, Lithuania

2 Tampere University Hospital, Tampere, Finland

3 Hospital P. Pederzoli, Peschiera del Garda, Verona, Italy

Topics

Pancreas

Published

2024

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Persistent lipase and localised damage: Cause or consequence?

Peter Hegyi 1

1 University of Pecs, Pecs, Hungary

Event

UEG Week Berlin 2025

Topics

Endoscopy Pancreas

Session

Therapy update: Acute severe pancreatitis – It's all about timing!

Citation

United European Gastroenterology Journal 2025; 13 (Supplement 8)

Published

2025

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RISK STRATIFICATION FOR BD-IPMN MALIGNANT TRANSFORMATION. THE ROLE OF OPERATIVE DIMENSIONAL GROUPING IN THE COST-EFFECTIVENESS OPTIMIZATION OF SURVEILLANCE GUIDELINES. THE PACMANS STUDY

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Introduction

In recent years, the detection of Branch Duct Intraductal Papillary Mucinous Neoplasms (BD-IPMN) has increased. The Association of Pancreatology (IAP) approved specific guidelines for their management in Fukuoka in 2017. The rates of malignant degeneration of these lesions remain unclear, raising concerns about the cost-effectiveness of the suggested surveillance strategies.

Aims & Methods

This study aimed to identify the rates of BD-IPMN malignant degeneration and their associated risk factors to propose a new, more cost-effective surveillance strategy. In this multicentric retrospective observational study, clinical and histopathological data of patients with IPMN were collected by four tertiary centers in Northern Italy. Multivariate Cox regression identified factors associated with a higher risk of malignant degeneration. A segmentation analysis aimed to define new dimensional cut-offs for better risk stratification. Demographic and anamnestic data relating to the patient (age, gender, comorbidities based on the Age-Adjusted Charlson Comorbidity-Index (ACCI), imaging, endoscopic examinations, and surgical interventions), to IPMN (presence of Worrisome Features (WF) and High-Risk Stigmata (HRS) as defined by IAP), and surveillance costs were collected. Malignant degeneration was defined as the presence of high-grade dysplasia or invasive neoplasia.

Results

The study enrolled 333 patients, with a total of 1400 visits and a median follow-up of 4 years. IPMN developed malignant degeneration in 3.3% of cases. Cancer risk factors included the presence of HRS (HR 4.4, 95%CI 1.1-17.8, p = 0.04), of at least two WFs (HR 5.8, 95%CI 1.5-22.4, p = 0.01), and cyst size (HR 2.0, 95%CI 1.3-3.0, p < 0.001). The latter discriminated this risk (AUC 0.91, 95%CI 0.84-0.97), and two new cut-offs of 1.5 and 3.0 cm identified three dimensional categories with significantly different neoplastic potential (OR 6.6, 95%CI 1.7-25.4, p = 0.007, OR 9.8, 95%CI 1.1-89.7, p = 0.04). Based on this, we proposed a new surveillance strategy that maintained diagnostic accuracy while reducing the cost per patient for a 3-year follow-up from 670.01 (407.33-1130.32) to 587.01 (347.10-930.28) euro, resulting in a total savings of 11% (p = 0.001).

Conclusion

IPMN malignant degeneration was infrequent. The presence of at least one WF, currently a cornerstone of guideline recommendations, did not independently associate with neoplastic risk, unlike HRS and the presence of at least two WFs. Implementing a follow-up strategy based on operatively identified dimensions (1.5 and 3 cm) could potentially enhance the cost-effectiveness of the 2017 Fukuoka IAP guidelines.