Genetic endocrine tumours focusing on pituitary tumours.

Abstract

Pituitary neuroendocrine tumours (PitNETs) are among the most common intracranial neoplasms. The majority arise sporadically; however, a small but clinically highly significant subset develops as a consequence of germline mutations. The aim of this review is to provide a categorical and comprehensive summary of the most relevant clinical and molecular aspects of germline alterations that lead to pituitary tumorigenesis either in isolated form or as part of complex hereditary tumour syndromes. In recent years, several classical tumour predisposition syndromes traditionally not associated with endocrine manifestations have been linked to PitNET formation. By reviewing these disorders in addition to novel germline mutations of emerging significance we aim to outline the rapidly expanding spectrum of hereditary conditions implicated in pituitary tumorigenesis. Within the context of the otherwise sparse sporadic landscape of PitNETs, we briefly discuss potential driver mutations implicated in tumour development.