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
Our website use cookies to improve and personalize your experience and to display advertisements(if any). Our website may also include cookies from third parties like Google Adsense, Google Analytics, Youtube. By using the website, you consent to the use of cookies. We have updated our Privacy Policy. Please click on the button to check our Privacy Policy.
