Early Onset Pancreatic Ductal Adenocarcinoma: preliminary data from a third level centre

Aims The incidence of early-onset pancreatic ductal adenocarcinoma (EOPDAC), defined as pancreatic cancer diagnosed before the age of 50, appears to be increasing in recent years. It has been postulated that EOPDAC may exhibit distinct biological, genetic and behavioural characteristics compared to late-onset pancreatic ductal adenocarcinoma (LOPDAC). The objective of this study is to retrospectively analyse the characteristics of EOPDAC cases diagnosed at our institute.

Methods This is a retrospective cohort study. Pathology reports were primarily collected from pancreatic endoscopic ultrasound (EUS) biopsies. The following data were collected: demographic information, exposure to risk factors (smoking, alcohol consumption), familiarity for oncological pathology, genetic testing, stage at diagnosis and follow-up data.

Results A total of 64 cases of EOPDAC diagnosed at our institute since 2012 were identified. The cohort consisted of 50% female patients with a mean age at diagnosis of 45.9 years and a mean body mass index (BMI) of 22.5. A total of 21 patients (33%) were diagnosed with metastatic disease. A positive family history of cancer was reported in 37 of the 64 patients (58%), with most cases involving pancreatic, breast, and ovarian cancers. A genetic panel comprising 26 genes associated with PDAC was tested in 36 of the 64 patients. Of the patients who underwent genetic testing, 12 exhibited mutations, comprising six cases of a high-penetrance pathogenic variant (PGV) and six cases of a variant of uncertain significance (VUS).

Conclusions The preliminary data indicate a robust correlation between EOPDAC and the presence of genetic variants in PDAC-associated genes. A notable proportion of cases are diagnosed at the metastatic stage, underscoring the necessity for investment in prevention and early diagnosis, particularly in high-risk individuals. Our future objective is to establish a multicentre, prospectively maintained registry of EOPDAC cases to facilitate a more comprehensive understanding of the disease as it affects young patients.

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Artikel online veröffentlicht:
27. März 2025