caa a22 4500 445331178 CHVBK 20180317142737.0 cr unu---uuuuu 170323e20110601xx s 000 0 eng 10.1007/s10689-011-9421-6 doi (NATIONALLICENCE)springer-10.1007/s10689-011-9421-6 Novel germline SDHD mutation: diagnosis and implications to the patient [Elektronische Daten] [Jeena Varghese, Montserrat Ayala-Ramirez, Thereasa Rich, Eric Rohren, Priya Rao, Camilo Jimenez] A 54-year-old man presented with hypertensive crisis. He was found to have bilateral pheochromocytomas and left paraaortic sympathetic paraganglioma. Although he had no family history of paragangliomas or pheochromocytomas, he had been diagnosed with bilateral head and neck paragangliomas 10years prior. The patient had symptoms of catecholamine excess exacerbated by vanilla ice-cream consumption. Biochemical testing revealed elevated plasma-free metanephrines and chromogranin A levels. Computed tomography showed bilateral carotid body tumors and four reteroperitoneal masses (two in the right adrenal, one in the left adrenal and one in the left paraaortic area). Metaiodobenzylguanidine-SPECT scans showed functional tumors in both the adrenal gland and left paraaortic area. Fluorine 18-fluorodeoxyglucose positron emission tomography did not show any visceral or skeletal metastasis. We carried out gene mutation analysis for succinate dehydrogenase complex subunit B, and succinate dehydrogenase complex subunit D. The patient was diagnosed with hereditary paraganglioma syndrome type 1 with a previously unreported subunit D mutation in exon 3 (c.198G>A, p.W66X). He was treated with phenoxybenzamine at 10mg/day and with metoprolol at 12.5mg/day. His blood pressures as well as symptoms of catecholamine excess were controlled. He then underwent bilateral adrenalectomy and reteroperitoneal dissection. His blood pressure normalized and he discontinued antihypertensive medications after surgery. He is currently on replacement therapy with hydrocortisone and fludrocortisone. Springer Science+Business Media B.V., 2011 Paraganglioma type 1 nationallicence Head and neck paragangliomas nationallicence Pheochromocytomas nationallicence Sympathetic paragangliomas nationallicence SDHD nationallicence Adrenal insufficiency nationallicence Flushing and vanilla ice-cream nationallicence mm Hg : Millimeters of mercury nationallicence CT : Computed tomography nationallicence MIBG : Metaiodobenzylguanidine nationallicence mCi : Millicuries nationallicence MEN : Multiple endocrine neoplasia nationallicence VHL : Von Hippel-Lindau disease nationallicence FDG : Fluorine 18 (18F)-fluorodeoxyglucose nationallicence PET : Positron emission tomography nationallicence SDH : Succinate dehydrogenase nationallicence PGL1 : Paraganglioma syndrome type 1 nationallicence MRI : Magnetic resonance imaging nationallicence Varghese Jeena Departments of Endocrine Neoplasia and Hormonal Disorders, Unit 1461, The University of Texas MD Anderson Cancer Center, 1515 Holcombe Blvd., 77030, Houston, TX, USA aut Ayala-Ramirez Montserrat Departments of Endocrine Neoplasia and Hormonal Disorders, Unit 1461, The University of Texas MD Anderson Cancer Center, 1515 Holcombe Blvd., 77030, Houston, TX, USA aut Rich Thereasa Departments of Surgical Oncology, The University of Texas MD Anderson Cancer Center, 77030, Houston, TX, USA aut Rohren Eric Departments of Nuclear Medicine, The University of Texas MD Anderson Cancer Center, 77030, Houston, TX, USA aut Rao Priya Departments of Pathology, The University of Texas MD Anderson Cancer Center, 77030, Houston, TX, USA aut Jimenez Camilo Departments of Endocrine Neoplasia and Hormonal Disorders, Unit 1461, The University of Texas MD Anderson Cancer Center, 1515 Holcombe Blvd., 77030, Houston, TX, USA aut Familial Cancer Springer Netherlands 10/2(2011-06-01), 365-371 1389-9600 10:2<365 2011 10 10689 https://doi.org/10.1007/s10689-011-9421-6 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10689-011-9421-6 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Varghese Jeena Departments of Endocrine Neoplasia and Hormonal Disorders, Unit 1461, The University of Texas MD Anderson Cancer Center, 1515 Holcombe Blvd., 77030, Houston, TX, USA aut NATIONALLICENCE 700 1- Ayala-Ramirez Montserrat Departments of Endocrine Neoplasia and Hormonal Disorders, Unit 1461, The University of Texas MD Anderson Cancer Center, 1515 Holcombe Blvd., 77030, Houston, TX, USA aut NATIONALLICENCE 700 1- Rich Thereasa Departments of Surgical Oncology, The University of Texas MD Anderson Cancer Center, 77030, Houston, TX, USA aut NATIONALLICENCE 700 1- Rohren Eric Departments of Nuclear Medicine, The University of Texas MD Anderson Cancer Center, 77030, Houston, TX, USA aut NATIONALLICENCE 700 1- Rao Priya Departments of Pathology, The University of Texas MD Anderson Cancer Center, 77030, Houston, TX, USA aut NATIONALLICENCE 700 1- Jimenez Camilo Departments of Endocrine Neoplasia and Hormonal Disorders, Unit 1461, The University of Texas MD Anderson Cancer Center, 1515 Holcombe Blvd., 77030, Houston, TX, USA aut NATIONALLICENCE 773 0- Familial Cancer Springer Netherlands 10/2(2011-06-01), 365-371 1389-9600 10:2<365 2011 10 10689 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer