Endocrine Abstracts

A pheochromocytoma is a rare, catecholamine-secreting tumor that may precipitate life-threatening hypertension. The tumor is malignant in 10% of cases. Although pheochromocytoma has classically been associated with von Hippel-Lindau (VHL) syndrome, multiple endocrine neoplasia type 2 (MEN 2), and neurofibromatosis type 1 (NF1) there are now 10 genes that have been identified as sites of mutations leading to pheochromocytoma.

Method and materials A case report.

Results: We present a 27 years old patient with spontaneous hematoma of frontoparietal brain region. On digital subtraction angiography no vascular anomaly was detected. Intracerebral hematoma was in resorption in control with MRI. He had high blood pressure in several occasions, also he reported flushing in face during the physical activity and one to two mushy stools. During additional examination (ultrasonography and CT scan of abdomen) we found expansive mass in right suprarenal gland sized 70 mm, with postcontrast intensification. Chest X-ray was normal. Ultrasonography of thyroid showed nodule of 5 mm in right lobe. All day monitoring of blood pressure was in normal range. Examination of fundus of the eye was normal. Echocardiographic ultrasound showed RVSP was 28 mmHg, tricuspid regurgitation 1+, and EDD of left ventricle 5.0 cm, ESD 3.3 cm and EF 63%. Immunological, hormonal status, plasma level of serotonin and tumor markers (NSE, CEA, CgA, calcitonin) were within normal range. Urinal catecholamine was repeated three times and was normal. Diurnal rhythm of cortisol was normal. Blood was taken for genetic analysis (VHL gene, TMEM, MLPA SDHx). Patient was prepared with Phenoxybenzaminhydrochlorid and underwent surgery procedure. Histopathology tumor had 78 g sized 7×4.5 cm indicated it was Pheochromocytoma PASS 1/20 and immunohistochemically he was positive for CgA, Syn, S100, Ki67 < 0,1%. On the one year follow up abdominal MRI showed hyperplasia of left adrenal gland sized 20×13 mm. He still had episodes of high blood pressure and flushing. MIBG scintigraphy was normal. Hormonal and suppression test were normal. OGTT, tumor markers and catecholamine’s were normal. Genetic study was negative for VHL MLPA and SDHx(B D C). TMEM and MAX (myc associated factor x) analysis are still in work. Scintigraphy of somatostatins receptors were normal. We preformed PET/CT with F18 DOPA, 231 MBq showed no signs of metabolic active disease.

Conclusion: In patients with spontaneous hematoma with no vascular anomaly, pheochromcytoma should be considered. Because of hyperplasia of left adrenal gland and undertaken analysis we decided for wait and watch