Expanding the phenotype of multiple endocrine neoplasia type 5 (MEN5): Pituitary gigantism, myelolipoma and familial pheochromocytoma due to a germline pathogenic MAX variant.

Abstract excerpt

PURPOSE: Multiple endocrine neoplasia type 5 (MEN5) is an emerging syndrome of endocrine and non-endocrine tumors caused by germline pathogenic variants or genomic rearrangements of the MAX gene. Although MAX variants are predominantly associated with pheochromocytoma-paraganglioma (PPGL) risk, there are a growing number of associated tumors in other organs, including pituitary adenomas. We characterized the...

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