Endocrine Abstracts

The presence of pheochromocytoma/paraganglioma can be characterized by typical clinical signs, due to hemodynamic and metabolic activity of circulating catecholamines or less a consequence of other amines or neuropeptides produced simultaneously. But the clinical picture can be also very different and can play a clinical picture of other diseases.

The authors present a case report from a patient with retroperitoneal paraganglioma. The patient was admitted to our unit because of high blood pressure, hyperglycemia and weight loss. The reason for the CT was differential diagnosis of cachexy. CT found a solid body left paraaortal retroperitoneal tumor (size 8.5×4.5×5.5 cm), which was insistent on the aorta and renal artery and had necrotic disintegration. The patient subsequently passed the examination of adrenal scintigraphy with ¹²³I-MIBG, which described paraganglioma left paraaortal, radiopharmaceutical uptake was present in both adrenals and one lymphatic nodule in mediastine – the impossibility of exclusion metastatic malignant pheochromocytoma. We performed PET-scan, with the picture of present bearing signs of central necrosis in the retroperitoneum (left paraaortal) with only a low 18-FDG metabolism, and no other pathological changes in relation to the underlying disease on PET/CT image. To exclude MEN 2A syndrome we examined parameters of the thyroid gland (also with USG control), where we found the presence of cystic bearing (size 7.6×11.5 mm). Puncture aspiration biopsy of the node showed adenomatous node with cystic changes. The patient underwent genetic testing, which excluded RET mutation-protooncogen. The patient was subsequently operated at Urology Department, the tumor was extirpated and the histological examination showed that this was a retroperitoneal extra-adrenal paraganglioma (with angioinvasion, perineural spread, and extension into fat) with a recommendation to continue to monitor the patient. To assess the residual findings we performed PET scan, which described pathological heterogeneous tissue with increased metabolic activity in the retroperitoneum in place of the original tumor. The patient was without clear symptoms of the underlying disease activity in PET/CT image of 18-FDG. The laboratory results as well as the PET results, we consulted with professor Karel Pacak, from NIH (National Institute of Health), Bethesda, MD, USA, in order to exclude a possible recurrence. The patient was hospitalized in NIH and passed through this hospitalization complete biochemical and imaging studies. Scintigraphy with ¹²³I-MIBG showed a normal distribution of MIBG activity in the salivary glands, lungs, liver, gastrointestinal tract and urinary bladder, without evidence neuroendocrine tumor FDG/PET radiopharmaceutical recaptured only slightly in the surgical bed in left periaortic field. At the same time by the NIH genetics was the patient tested for familial paraganglioma (mutation succinatdehydrogenase subunits B and D), which has not been confirmed. Comprehensive examination of disease recurrence was ruled out for now.

Our case report will show that paranganglioma can be an ‘actor’ of clinical picture. In the diagnostic process is today also genetic examination very necessary, because of the knowledge of new gene mutations in the pathogenesis of endocrine diseases.