eISSN: 1897-4252
ISSN: 1731-5530
Kardiochirurgia i Torakochirurgia Polska/Polish Journal of Thoracic and Cardiovascular Surgery
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3/2016
vol. 13
 
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abstract:

Mediastinal paragangliomas related to SDHx gene mutations

Ilona Michałowska
,
Jarosław Ćwikła
,
Aleksander Prejbisz
,
Paweł Kwiatek
,
Małgorzata Szperl
,
Wojciech Michalski
,
Lucjan Wyrwicz
,
Mariusz Kuśmierczyk
,
Andrzej Januszewicz
,
Anna Maciejczyk
,
Marta Roszczynko
,
Mariola Pęczkowska

Kardiochirurgia i Torakochirurgia Polska 2016; 13 (3): 276-282
DOI: https://doi.org/10.5114/kitp.2016.62624
Online publish date: 2016/09/30
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Introduction: Paragangliomas (PGLs) related to hereditary syndromes are rare mediastinal tumors. Paragangliomas are caused by mutations in genes encoding subunits of succinate dehydrogenase enzyme (SDH).

Aim: To evaluate clinical, anatomical and functional characteristics of mediastinal paragangliomas related to SDHx gene mutations.

Material and methods: Retrospective analysis of 75 patients with confirmed SDHx gene mutations (24 patients with SDHB, 5 SDHC, 46 with SDHD mutations) was performed. Patients underwent evaluation using computed tomography (CT), somatostatin receptor scintigraphy (SRS) (99mTc-[HYNIC,Tyr3]-octreotide), 123I mIBG scintigraphy and urinary excretion of total methoxycatecholamines.

Results: Out of 75 patients, 16 (21%) patients (1 SDHB, 15 SDHD 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 SDHB mutation and PGL detected in the posterior mediastinum, who had a metastatic disease.

Conclusions: Most mediastinal paragangliomas were related to SDHD gene mutations. They were asymptomatic, localized in the medial mediastinum, intrapericardially.
keywords:

mediastinal paraganglioma, paraganglioma-pheochromocytoma syndromes, SDHx gene mutations
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