Authors
Minna Basania P Sa, Roshny Jacoba, N Laila Rajia
aDepartment of Pathology, Government Medical College, Thiruvananthapuram, Kerala, India
Abstract
Background: Pheochromocytoma is a tumour of chromaffin cells arising in the adrenal medulla, for which genetic susceptibility is the only known causative factor.
Case Presentation: 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. She underwent bilateral adrenalectomy, and the diagnosis was confirmed by histopathology. Further genetic studies, prompted by the bilateral nature of the tumor, revealed a VHL gene mutation through clinical exome sequencing.
Conclusion: The management of Pheochromocytoma Paraganglioma (PPGL) is evolving, with molecular classification grouping tumors into specific gene clusters based on underlying mutations. These clusters hold definite clinical, biochemical, imaging, and prognostic significances. Therefore, molecular characterization of Pheochromocytoma is crucial for personalized patient management plans in the current era.