Genetic characterization of pituitary neuroendocrine tumours in the maltese population

Pituitary neuroendocrine tumours (PitNETs) have a prevalence of 75.7/100,000 within the Maltese population. These tumours present a wide range of clinical behaviours, from hormone overproduction to local effects secondary to compression of adjacent structures, making them a significant public health concern. Despite their prevalence, the genetic factors contributing to sporadic PitNETs, which account for 95% of all cases, remain poorly understood. The primary aim of this study was to identify genetic variants associated with PitNETs in Maltese patients using germline whole exome sequencing, thereby contributing to the global understanding of the genetic aetiology of these tumours.