Case of Bilateral Pheochromocytoma in a Young Female with VHL Mutation - A Glance into Novel Insights on Genetics of Pheochromocytoma

Abstract

Pheochromocytoma is a tumour of chromaffin cells arising in the adrenal medulla, for which genetic susceptibility is the only known causative factor. Here we describe a case of a 15-year-old girl who presented with hypertension and associated symptoms like headache and chest tightness lasting for nearly one month. On evaluation, she was found to have bilateral Pheochromocytoma, following which she underwent bilateral adrenalectomy and the diagnosis was confirmed by histopathology. Being a bilateral tumor we proceeded with further genetic studies. Clinical exome sequencing revealed a VHL gene mutation. Management of Pheochromocytoma Paraganglioma (PPGL) has now taken new turns which is based on molecular classification that groups them into three specific gene clusters based on underlying gene mutations, which have definite clinical, biochemical, imaging and prognostic significances. Molecular characterization of Pheochromocytoma hence becomes of utmost importance in the era of personalized patient management plans.