Mediastinal paragangliomas related to SDHx gene mutations

• Published in: Kardiochirurgia i torakochirurgia polska Vol. 3; no. 3; pp. 276 - 282
• Main Authors: Michałowska, Ilona, Ćwikła, Jarosław, Prejbisz, Aleksander, Kwiatek, Paweł, Szperl, Małgorzata, Michalski, Wojciech, Wyrwicz, Lucjan, Kuśmierczyk, Mariusz, Januszewicz, Andrzej, Maciejczyk, Anna, Roszczynko, Marta, Pęczkowska, Mariola
• Format: Journal Article
• Language: English
• Published: Poland Termedia Publishing House 01.09.2016
• Subjects: Diagnostic Imaging; SDHx gene mutations; mediastinal paraganglioma; paraganglioma-pheochromocytoma syndromes
• ISSN: 1731-5530; 1897-4252
• DOI: 10.5114/kitp.2016.62624

Paragangliomas (PGLs) related to hereditary syndromes are rare mediastinal tumors. Paragangliomas are caused by mutations in genes encoding subunits of succinate dehydrogenase enzyme (SDH). To evaluate clinical, anatomical and functional characteristics of mediastinal paragangliomas related to gene mutations. Retrospective analysis of 75 patients with confirmed gene mutations (24 patients with , 5 , 46 with mutations) was performed. Patients underwent evaluation using computed tomography (CT), somatostatin receptor scintigraphy (SRS) ( Tc-[HYNIC,Tyr3]-octreotide), I mIBG scintigraphy and urinary excretion of total methoxycatecholamines. Out of 75 patients, 16 (21%) patients (1 , 15 mutations) had 17 PGLs localized in the mediastinum. Fourteen PGLs were localized in the middle mediastinum (intrapericardial) and 3 PGLs in the posterior mediastinum. The median diameter of paragangliomas measured on the axial slice was 24.3 mm (interquartile range (IQR): 14.7-36.6), and the median volume was 2.78 ml (IQR: 0.87-16.16). Twelve out of 16 patients (75%) underwent SRS, and 11 of them (92.3%) had pathological uptake of the radiotracer. Eleven (68.75%) out of 16 patients underwent 123 I mIBG, with only 3 positive results. Symptoms of catecholamine excretion were observed in 3 patients with PGLs localized in the posterior mediastinum. All PGLs were benign except in 1 patient with the mutation and PGL detected in the posterior mediastinum, who had a metastatic disease. Most mediastinal paragangliomas were related to gene mutations. They were asymptomatic, localized in the medial mediastinum, intrapericardially.