Expanding the Spectrum in Hereditary Pheochromocytoma and Paraganglioma
Aysegul Eren, Pamela L Brock, Priya H Dedhia
JCEM Case Reports, Volume 3, Issue 7, July 2025, luaf119
https://doi.org/10.1210/jcemcr/luaf119
Germline pathogenic variants in MYC-associated factor X (MAX) are a rare cause of hereditary pheochromocytoma and paraganglioma (PPGL) syndrome, typically presenting with pheochromocytomas (PCC). Although MAX-related PPGLs are generally characterized by an adrenergic phenotype and bilateral tumors in 67% of cases, the tumor spectrum associated with MAX pathogenic variants remains poorly understood. We present a case of a 28-year-old man with a germline MAX pathogenic variant (c.64-2A>G) who developed bilateral PCC and later, a liver sarcoma with a TP53 variant and PLEKHO2::BRAF gene fusion. The diagnosis of sarcoma in this young patient underscores a potential association between MAX pathogenic variants and an increased predisposition to sarcoma development. Our findings suggest that MAX-related PPGLs may be associated with other malignancies, including sarcoma, and support expanding surveillance guidelines to include whole-body imaging for early detection of extra-adrenal tumors. Given the rarity of MAX pathogenic variants, further studies are needed to elucidate the full spectrum of presentation and establish comprehensive evidence-based surveillance strategies.
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