MEN5 syndrome Archives

Tag: MEN5 syndrome

MEN5
Germline variants in the MAX tumor suppressor gene cause the autosomal dominant MEN5. Patients develop pheochromocytomas of the adrenal
medulla, which are often bilateral and can have multiple lesions within one adrenal gland. Malignant and/or metachronous disease is common. Less frequently, extra-adrenal sympathetic paragangliomas, ganglioneuromas, ganglioneuroblastoma, composite pheochromocytoma/ganglioneuroma and neuroblastomas are described. Parathyroid adenomas and functional pituitary NET (prolactinomas or somatotropinomas) often occur after pheochromocytomas. In contrast to MEN2, medullary thyroid carcinomas and C-cell hyperplasia are not described. MAX-associated tumors are often multiple, bilateral and/or multicentric, but are indistinguishable from their sporadic counterparts. Adrenal medullary hyperplasia may occur in this syndrome, although it is less common than in patients with MEN2 syndrome and SDH-deficient PPGL. At present, MAX immunohistochemistry in routine clinical practice is limited and it is not recommended as a screening test of MAX mutation

21 Nov 2024

By Ronny Allan

6 Comments

A spotlight on Multiple Endocrine Neoplasia (MEN)

Awareness, Living with Neuroendocrine CancerCDKN1B, Endocrine, Familial medullary thyroid cancer (FMTC), Genetics, Hereditary cancer syndrome, MEN1 syndrome, MEN2 syndrome, MEN2A syndrome, MEN2B syndrome, MEN4 syndrome, MEN5 syndrome, MENX, Multiple Endocrine Neoplasia (MEN), Neuroendocrine, Paraganglioma, Parathyroid gland, Pheochromocytoma, Pituitary gland

First published 2015, updated for 2025. Overview We all know that Neuroendocrine Tumours (NETs) and their syndromes are complex but there is even more complexity to be found in a group of related disorders known as Multiple Endocrine Neoplasia (MEN). I recommend all NET patients should try to understand the basics of MEN and vice versa, particularly as both conditions seem to come with a plethora of endocrine-related effects. MEN patients will normally have a tumour in at least two endocrine glands - thus the terms 'Multiple' and 'Endocrine' (tumours can also develop in other organs and tissues). Neoplasia is…