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Trisha Dwight, Aidan Flynn, Kaushalya Amarasinghe, Diana E Benn, Richard Lupat, Jason Li, Daniel L Cameron, Annette Hogg, Shiva Balachander, Ida L M Candiloro, Stephen Q Wong, Bruce G Robinson, Anthony T Papenfuss, Anthony J Gill, Alexander Dobrovic, Rodney J Hicks, Roderick J Clifton-Bligh, and Richard W Tothill

Chabre O 2014 Germline mutations in FH confer predisposition to malignant pheochromocytomas and paragangliomas . Human Molecular Genetics 23 2440 – 2446 . ( https://doi.org/10.1093/hmg/ddt639 ) Castro-Vega LJ Lepoutre-Lussey C

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Hartmut P H Neumann and Wouter de Herder

Menara M Khalifa E Amar L Azriel S Bourdeau I Chabre O 2014 Germline mutations in FH confer predisposition to malignant pheochromocytomas and paragangliomas . Human Molecular Genetics 23 2440 – 2446 . ( doi:10.1093/hmg/ddt639

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Ernst von Dobschuetz, Helena Leijon, Camilla Schalin-Jäntti, Francesca Schiavi, Michael Brauckhoff, Mariola Peczkowska, Giovanna Spiazzi, Serena Demattè, Maria Enrica Cecchini, Paola Sartorato, Jolanta Krajewska, Kornelia Hasse-Lazar, Katarzyna Roszkowska-Purska, Elisa Taschin, Angelica Malinoc, Lars A Akslen, Johanna Arola, Dariusz Lange, Ambrogio Fassina, Gianmaria Pennelli, Mattia Barbareschi, Jutta Luettges, Aleksander Prejbisz, Andrzej Januszewicz, Tim Strate, Birke Bausch, Frederic Castinetti, Barbara Jarzab, Giuseppe Opocher, Charis Eng, and Hartmut P H Neumann

patient (case 1). Table 1 Clinical findings in eight patients who entered the registry with the diagnosis of thyroid paraganglioma Case Age Sex Paraganglioma confirmed Benign/malignant Symptoms Hypertension Preoperative ultrasonography Fine needle biopsy

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B Havekes, A A van der Klaauw, M M Weiss, J C Jansen, A G L van der Mey, A H J T Vriends, B A Bonsing, J A Romijn, and E P M Corssmit

in our patients is shown in Table 3 . Norepinephrine, VMA and, if tested, normetanephrine were most frequently elevated, whereas elevation of epinephrine was only detected in two patients, one of whom had a malignant bladder paraganglioma (number 17

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Eamonn R Maher

tumour growth in nude mice assays. Malignant paragangliomas are known to be associated with germline SDHB mutations and although malignancy has yet to be reported in HIF2A -mutated tumours, the significance of HIF2A mutations for rate of tumour

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Jean-Pierre Bayley, Marjan M Weiss, Anneliese Grimbergen, Bernadette T J van Brussel, Frederik J Hes, Jeroen C Jansen, Senno Verhoef, Peter Devilee, Eleonora P Corssmit, and Annette H J T Vriends

paraganglioma secreting catecholamines. In general, only about 5% of head and neck paragangliomas has been reported to secrete catecholamines ( Erickson et al . 2001 ). Interestingly, Niemann et al . (2003) reported one case of a malignant catecholamine

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Bora E Baysal and Eamonn R Maher

than HNPGL or pheochromocytoma, and there is a significantly higher risk of malignant paraganglioma and poor prognosis (∼25% lifetime risk; Gimenez-Roqueplo et al . 2003 , Amar et al . 2007 , Ricketts et al . 2010 ). Despite the heterogeneity of

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Arthur S Tischler and Ronald R deKrijger

variations, pheochromocytomas or paragangliomas are occasionally encountered as composite tumors admixed with neuroblastoma, ganglioneuroblastoma, or malignant peripheral nerve sheath tumor ( Tischler 2000 ). One admixed tumor that is probably misnamed and

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E Patterson, R Webb, A Weisbrod, B Bian, M He, L Zhang, A K Holloway, R Krishna, N Nilubol, K Pacak, and E Kebebew

benign and malignant localized pheochromocytomas. Pheochromocytoma can be associated with autosomal hereditary cancer syndromes, such as multiple endocrine neoplasia type 2 (MEN2A and MEN2B), von Hippel–Lindau syndrome (VHL), paraganglioma syndrome type 1

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Massimo Mannelli, Elena Rapizzi, Rossella Fucci, Letizia Canu, Tonino Ercolino, Michaela Luconi, and William F Young Jr

caused another familial syndrome, termed PGL4, which was characterized by the occurrence of primariy abdominal catecholamine-secreting paragangliomas. Subsequently it was recognized that SDHB mutations were associated with a higher risk of malignant