Familial and early recurrent pheochromocytoma in a child with a novel in-frame duplication variant of <i>VHL</i>.

ABSTRACT: Pheochromocytomas and paragangliomas (PPGLs) are rare neuroendocrine tumors often linked to underlying genetic variants. Genetic analysis can promote gene-adjusted, specific follow-up, and surveillance protocols for both patients and their families at risk. We report the case of a 7-yr-old boy with bilateral pheochromocytoma, which recurred a year after partial adrenalectomy. The patient's father developed bilateral pheochromocytomas at 25 yr of age. Both individuals possessed a novel heterogeneous in-frame duplication germline variant of VHL, yet neither exhibited other clinical manifestations of von Hippel-Lindau disease (VHL). Traditionally, VHL missense mutations have been associated with a higher risk of PPGL development, whereas truncating mutations typically confer a l

SUBMITTER: Suzuki Y 

PROVIDER: S-EPMC11442702 | biostudies-literature | 2024 Oct

REPOSITORIES: biostudies-literature