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Il Giornale Italiano di Radiologia Medica 2018 Marzo-Aprile;5(2):249-56

DOI: 10.23736/S2283-8376.18.00035-9

Copyright © 2018 EDIZIONI MINERVA MEDICA

language: Italian

Familiar paraganglioma-pheochromocytoma syndromes: bilateral metastatic neck paraganglioma in a patient with gene SDHD-mutation

Monica M. LANZETTA 1, Diletta COZZI 1, Gloria ADDEO 1, Ginevra DANTI 1, Letizia CANU 2, Giuseppina DE FILPO 2, Tonino ERCOLINO 3, Massimo MANNELLI 2, Vittorio MIELE 1

1 SOD Radiodiagnostica di Emergenza Urgenza, Dipartimento dei Servizi, Azienda Ospedaliero Universitaria Careggi, Firenze, Italia; 2 Dipartimento di Scienze Biomediche Sperimentali e Cliniche “Mario Serio”, Azienda Ospedaliero Universitaria Careggi, Firenze, Italia; 3 Unità di Endocrinologia, Azienda Ospedaliero Universitaria Careggi, Firenze, Italia


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Familiar pheochromocytoma/paraganglioma syndromes (PGL/PCC syndromes) are characterized by the presence of these tumours in subjects with gene SDHA, SDHB, SDHC and SDHD mutations, that encode the four sub-units of mitochondrial succinate-dehydrogenase, and gene SDHAF2 (or assembling factor 2) mutations, required for flavination of the sub-unit A. The corresponding family syndromes, called PGL from 1 to 5, have wide clinical variability, but often occur with the appearance of paragangliomas/pheochromocitomas in the retroperitoneal spaces and head/neck regions (often glomic tumours), both secreting and non-secreting, benign in most cases. We describe a case of a 40-year-old woman with gene SDHD mutation, with bilateral and recurrent neck paragangliomas with hepatic, pulmonary and vertebral metastases. Knowledge of clinical manifestations and distinctive features of these familiar syndromes (together with proper genetical analysis) allows an accurate diagnosis and enables the patient to be placed in a close follow-up to early identify a recurrence of illness or the onset of malignant metastases.


KEY WORDS: Paraganglioma - Pheochromocytoma - Mutation - Magnetic resonance imaging

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