title: [Hereditary phaeochromocytoma in twins].
abstract: Phaeochromocytoma is a tumor of the catecholamine-producing cells of the adrenal gland. Extraadrenal phaeochromocytomas are frequently called paragangliomas. The majority of phaeochromocytomas are sporadic, however, about 25-30% are caused by genetic mutation. These tumor are frequently referred as hereditary phaeochromocytomas/paragangliomas. Their incidence increases continuously which can be attributed to availability of genetic examination and to the discovery of novel genes. The 47-year-old female patient underwent abdominal computed tomography which revealed bilateral adrenal gland enlargement. Abdominal magnetic resonance imaging, the 131-I- metaiodobenzylguanidine scintigraphy, urinary catecholamines and serum chomogranin A measurements confirmed the diagnosis of bilateral phaeochromocytomas. The genetically identical twin sister of the patient was also diagnosed with hormonally active bilateral phaechromocytoma, suggesting the genetic origin of phaeochromocytoma. Mutation screening confirmed a germline mutation of the transmembrane protein 127 tumorsupressor gene in both patients. Both patients underwent cortical-sparing adrenalectomy. The adrenal gland with the larger tumor was totally resected, while in the opposite side only the tumor was resected and a small part of the cortex was saved. After the operation urinary catecholamines and serum chromogranin A returned to normal in both patients. Adrenocortical deficiency was absent in the first patient, but her sister developed adrenal insufficiency requiring glucocorticoid replacement. To the best of the authors' knowledge phaeochromocytoma affecting twins has never been described earlier. Genetic examination performed in siblings confirmed the presence of the mutant gene through four generations. Orv. Hetil., 2016, 157(33), 1326-1330.
authors: Endokrinológiai szakrendelés, Szent Lázár Megyei Kórház Salgótarján, Füleki út 54-56., 3100.
authors: Géza
authors: G
authors: Tóth
authors: Lendület Örökletes Endokrin Daganatok Kutatócsoport, Magyar Tudományos Akadémia-Semmelweis Egyetem Budapest.
authors: Attila
authors: A
authors: Patócs
authors: II. Belgyógyászati Klinika, Semmelweis Egyetem, Általános Orvostudományi Kar Budapest.
authors: Miklós
authors: M
authors: Tóth
mesh_terms: D019797:3-Iodobenzylguanidine / Q000008:administration & dosage; D000302:Adrenal Cortex / Q000601:surgery; D000310:Adrenal Gland Neoplasms / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics* / Q000378:metabolism; D000315:Adrenalectomy / Q000379:methods; D014408:Biomarkers, Tumor / Q000097:blood / Q000378:metabolism* / Q000652:urine; D002395:Catecholamines / Q000652:urine*; D053379:Chromogranin A / Q000097:blood*; D005260:Female; D018095:Germ-Line Mutation; D006801:Humans; D008279:Magnetic Resonance Imaging; D008875:Middle Aged; D059351:Organ Sparing Treatments; D010235:Paraganglioma / Q000175:diagnosis / Q000235:genetics; D010673:Pheochromocytoma / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics* / Q000378:metabolism; D011877:Radionuclide Imaging / Q000379:methods; D014057:Tomography, X-Ray Computed; D014427:Twins
chemical_list: D014408:Biomarkers, Tumor; D002395:Catecholamines; D053379:Chromogranin A; D019797:3-Iodobenzylguanidine
keywords: TMEM127 gene mutation; TMEM127 génmutáció; egypetéjű ikrek; hereditary phaeochromocytoma; identical twins; örökletes phaeochromocytoma