title: Analysis of pheochromocytomas / paragangliomas from Eastern Slovakia.
abstract: This multi centre observational cohort study gives a view about the occurrence, clinical and laboratory presentation, localization, histological type and genetic background of pheochromocytoma (PHEO) and paraganglioma (PGL) in Eastern Slovakia. It included 28 patients (18 women + 10 men), of which 23 were diagnosed to have PHEO (82,1%) and 7 patients (25%) suffered from PGL with retroperitoneal, inguinal/pelvic and mediastinal distribution. Arterial hypertension was the major symptom present in 86 % with slight dominance of paroxysmal form (58%). In 3 cases (10,7%), the diagnosis was gained after differentiation of adrenal incidentaloma in asymptomatic patients. Five patients (17,8%) were classified to have malignant form of the disease. 9 patients (32,1%) were confirmed to have hereditary form - five of them (17,8%) with familiar medullar thyroid cancer (FMTC) and mutations in RET gene classified as multiple endocrine neoplasia 2A and 4 patients (14,3%) with germline mutations of SDHB gene, respectively. There was found a relatively high occurrence of other co-morbidities: thyroid disease in 20 patients (71,4%), impairment of glucose metabolism in 11 patients (39,3%) and apart from FMTC, 4 patients (14,3%) suffered also from other malignancy. Together with a bigger size of the primary tumor (6,6 cm), higher concentrations of metanephrines and prevalence of extra-adrenal tumors, malignant and hereditary forms, we suppose genetic and environmental factors of Eastern Slovakia may play a role in the etiopathogenesis of the tumors.
authors.affiliation: 1st Department of Internal Medicine, Louis Pasteur University Hospital, Slovakia.
authors.forename: M
authors.initials: M
authors.lastname: Felsoci
authors.forename: I
authors.initials: I
authors.lastname: Lazurova
authors.forename: H
authors.initials: H
authors.lastname: Wagnerova
authors.forename: M
authors.initials: M
authors.lastname: Svajdler
mesh_terms: D000310:Adrenal Gland Neoplasms / Q000175:diagnosis / Q000209:etiology* / Q000235:genetics / Q000601:surgery; D000328:Adult; D000368:Aged; D015331:Cohort Studies; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D010235:Paraganglioma / Q000175:diagnosis / Q000209:etiology* / Q000235:genetics / Q000601:surgery; D010673:Pheochromocytoma / Q000175:diagnosis / Q000209:etiology* / Q000235:genetics / Q000601:surgery; D018154:Slovakia