Definition Multiple endocrine neoplasia type 5 (MEN5) is an inherited tumour syndrome caused by pathogenic germline sequence variants in the MYC-associated factor X (MAX) tumour suppressor gene.

The clinical presentation of MEN5 syndrome encompasses the classic MEN endocrinopathies such as phaeochromocytoma/paraganglioma (PPGL), pituitary neuroendocrine tumours (PitNETs)/pituitary adenomas and multiglandular parathyroid adenomas, in addition to neural crest origin tumours such as ganglioneuroma and neuroblastoma

Essential: Demonstration of germline MAX pathogenic sequence variant

Desirable: Personal or family history of MEN5 syndrome-related lesions

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