A rare VHL gene mutation (p.Val84Met) in a young woman with bilateral pheochromocytoma: Expanding the genotypic spectrum of VHL syndrome

ABSTRACT

Bilateral pheochromocytomas are strongly suggestive of an underlying hereditary syndrome; however, the absence of classical syndromic features can delay recognition and genetic diagnosis. Here, we report a rare pathogenic variant in the von Hippel–Lindau ( VHL ) gene (p. Val84Met) identified in a 36-year-old woman presenting with bilateral pheochromocytomas in the absence of other clinical manifestations of VHL syndrome. This case report underscores the importance of considering germline genetic testing in patients with bilateral pheochromocytomas, even when syndromic features are not clinically evident. The patient underwent successful bilateral adrenalectomy with subsequent biochemical remission. She has been initiated on appropriate hormone replacement therapy and is planned for lifelong surveillance for potential development of other VHL-associated manifestations.