title: Mediastinal paragangliomas related toSDHxgene mutations.
abstract: BACKGROUND
  Paragangliomas (PGLs) related to hereditary syndromes are rare mediastinal tumors. Paragangliomas are caused by mutations in genes encoding subunits of succinate dehydrogenase enzyme (SDH).
  
  
  OBJECTIVE
  To evaluate clinical, anatomical and functional characteristics of mediastinal paragangliomas related toSDHxgene mutations.
  
  
  METHODS
  Retrospective analysis of 75 patients with confirmedSDHxgene mutations (24 patients withSDHB, 5SDHC, 46 withSDHDmutations) 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 (1SDHB, 15SDHDmutations) 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 theSDHBmutation and PGL detected in the posterior mediastinum, who had a metastatic disease.
  
  
  CONCLUSIONS
  Most mediastinal paragangliomas were related toSDHDgene mutations. They were asymptomatic, localized in the medial mediastinum, intrapericardially.
authors: Department of Radiology, Institute of Cardiology, Warsaw, Poland.
authors: Ilona
authors: I
authors: Michałowska
authors: Department of Nuclear Medicine, Faculty of Medical Science, University of Warmia, Olsztyn, Poland.
authors: Jarosław
authors: J
authors: Ćwikła
authors: Department of Hypertension, Institute of Cardiology, Warsaw, Poland.
authors: Aleksander
authors: A
authors: Prejbisz
authors: Department of Radiology, Institute of Cardiology, Warsaw, Poland.
authors: Paweł
authors: P
authors: Kwiatek
authors: Laboratory of Molecular Biology, Institute of Cardiology, Warsaw, Poland.
authors: Małgorzata
authors: M
authors: Szperl
authors: Bioinformatics and Biostatistics Unit, The Maria Skłodowska-Curie Memorial Cancer Center and Institute of Oncology, Warsaw, Poland.
authors: Wojciech
authors: W
authors: Michalski
authors: Bioinformatics and Biostatistics Unit, The Maria Skłodowska-Curie Memorial Cancer Center and Institute of Oncology, Warsaw, Poland; Department of Gastrointestinal Cancer, The Maria Skłodowska-Curie Memorial Cancer Center and Institute of Oncology, Warsaw, Poland.
authors: Lucjan
authors: L
authors: Wyrwicz
authors: Department of Cardiac Surgery and Transplantology, Institute of Cardiology, Warsaw, Poland.
authors: Mariusz
authors: M
authors: Kuśmierczyk
authors: Department of Hypertension, Institute of Cardiology, Warsaw, Poland.
authors: Andrzej
authors: A
authors: Januszewicz
authors: Laboratory of Molecular Biology, Institute of Cardiology, Warsaw, Poland.
authors: Anna
authors: A
authors: Maciejczyk
authors: Laboratory of Molecular Biology, Institute of Cardiology, Warsaw, Poland.
authors: Marta
authors: M
authors: Roszczynko
authors: Department of Hypertension, Institute of Cardiology, Warsaw, Poland.
authors: Mariola
authors: M
authors: Pęczkowska
keywords: SDHx gene mutations; mediastinal paraganglioma; paraganglioma-pheochromocytoma syndromes