@Article{Michałowska2016,
journal="Kardiochirurgia i Torakochirurgia Polska/Polish Journal of Thoracic and Cardiovascular Surgery",
issn="1731-5530",
volume="13",
number="3",
year="2016",
title="Mediastinal paragangliomas related to SDHx gene mutations",
abstract=" 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) ( 99m Tc-[HYNIC,Tyr3]-octreotide),  123 I 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.",
author="Michałowska, Ilona
and Ćwikła, Jarosław
and Prejbisz, Aleksander
and Kwiatek, Paweł
and Szperl, Małgorzata
and Michalski, Wojciech
and Wyrwicz, Lucjan
and Kuśmierczyk, Mariusz
and Januszewicz, Andrzej
and Maciejczyk, Anna
and Roszczynko, Marta
and Pęczkowska, Mariola",
pages="276--282",
doi="10.5114/kitp.2016.62624",
url="http://dx.doi.org/10.5114/kitp.2016.62624"
}