Pheochromocytoma due to TMEM127 mutation - The importance of genetic testing for clinical decision

Abstract

Apreviously healthy 53-year-old woman presented with new onset arterial hypertension diagnosed during workup for daily pulsatile bilateral frontal headaches and paroxysmal episodes of fatigue, palpitations and sweating. High urinary metanephrines were detected and an abdominal magnetic resonance image evidenced two nodular bilateral adrenal lesions and a left iliac focal lesion. 18F-FDG-PET/CT (fluorodeoxyglucose-positron emission tomography/computed tomography) scanning revealed mild-to-moderate uptake in both adrenal lesions and mild uptake in the iliac bone, whereas 123I-metaiodobenzylguanide scintigraphy revealed uptake only in the right adrenal. CT-scan confirmed the heterogeneous nodular lesion on the right adrenal gland as suspicious for pheochromocytoma and a non-specific sclerotic lesion in the iliac. A right adrenalectomy was performed with posterior resolution of symptoms and normalisation of urinary metanephrines. Histology confirmed a pheochromocytoma and later a mutation of the TMEM127 gene was detected. The present case highlights the importance of genetic testing for pheochromocytoma in order to better guide the management of these patients.