A contemporary overview of multiple endocrine neoplasia syndromes: MEN syndromes 1-5 and beyond.

Abstract

Multiple endocrine neoplasia (MEN) syndromes constitute a heterogeneous group of hereditary disorders predisposing to endocrine tumours of varying malignant potential. Recent advances in molecular genetics and tumour biology have significantly reshaped our understanding of underlying pathophysiology, enabling earlier diagnosis, genotype-specific surveillance and the emergence of targeted therapies. This review provides a contemporary overview of key recent advances and consensus guidelines across MEN syndromes, including MEN1, MEN2, MEN4, and MEN5 syndromes, SDHx syndrome, Carney complex, McCune-Albright syndrome, DICER1 syndrome and von Hippel-Lindau syndrome. These insights reflect a rapidly evolving field with genetic diagnosis at the centre of prognostic assessment, targeted surveillance and individualised management.