EP93 - ECE_2628 - Atypical presentation of silent pheochromocytoma in a young patient

Abstract

Title: A biochemically silent pheochromocytoma in a young patient Pheochromocytoma is a catecholamine-secreting tumor originating from chromaffin cells of the adrenal medulla. The majority of tumors that secrete catecholamines are sporadic. The catecholamine-secreting tumors are more likely to be bilateral adrenal pheochromocytomas or paragangliomas in about 40% of people who have the condition as part of a hereditary disorder. To describe an atypical presentation of pheochromocytoma as an adrenal incidentaloma in a young adult and to emphasize the importance of recognizing hereditary tumor syndromes. A 25-year-old asymptomatic man of Guinean origin was found to have a right adrenal mass during abdominal ultrasound performed for abnormal liver function tests. Clinical evaluation, biochemical investigations, multimodal imaging (adrenal MRI, PET-DOTANOC), and surgical management were undertaken. In this case of a young patient with an adrenal tumor showing imaging signs of pheochromocytoma, we also performed genetic testing. Adrenal MRI revealed a right adrenal mass measuring approximately 3 cm. Urinary catecholamines were normal, and blood tests showed only a slight elevation of neuron-specific enolase. PET-DOTANOC revealed an adrenal lesion with marker uptake at the tumor site. No lymphadenopathy or other visceral lesions were detected. Right adrenalectomy was performed. Histopathology confirmed a completely excised pheochromocytoma without capsular invasion, with one mitosis per 10 mm2 and a low Ki-67 index of 1%.The genetic panel performed indicated the presence of the VHL gene mutation, confirming Von Hippel Lindau syndrome. This case highlights the diagnostic challenges of biochemically silent pheochromocytomas in young patients. Genetic testing including VHL gene mutations should be strongly considered in such cases to allow early diagnosis, appropriate surveillance, and family screening.