Literature DB >> 20833333

SDH-related pheochromocytoma and paraganglioma.

Vitaly Kantorovich1, Kathryn S King, Karel Pacak.   

Abstract

Pheochromocytoma and paraganglioma are rare tumors of adrenals as well as the sympathetic and parasympathetic paraganglia. Clinical presentation of these tumors depends on localization, secretory profile and malignant potential. Four distinct syndromes--PGL1-4--are related to mutations in the succinate dehydrogenase gene--mitochondrial complex involved in electron transfer and Krebs cycle. Here we describe etiology, genetics, as well as clinical aspects of SDH-related tumors. We also describe recent discoveries in HIF-related pathway of tumorigenesis and mutations in new SDH-related genes that have improved our understanding of this disease. Published by Elsevier Ltd.

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Year:  2010        PMID： 20833333      PMCID： PMC2939070          DOI： 10.1016/j.beem.2010.04.001

Source DB:  PubMed          Journal:  Best Pract Res Clin Endocrinol Metab        ISSN： 1521-690X            Impact factor:   4.690


  61 in total

1.  High frequency of SDHB germline mutations in patients with malignant catecholamine-producing paragangliomas: implications for genetic testing.

Authors:  Frederieke M Brouwers; Graeme Eisenhofer; Jessica J Tao; Jeffrey A Kant; Karen T Adams; W Marston Linehan; Karel Pacak
Journal:  J Clin Endocrinol Metab       Date:  2006-08-15       Impact factor: 5.958

2.  Long-term outcome of a large series of patients surgically treated for pheochromocytoma.

Authors:  A Khorram-Manesh; H Ahlman; O Nilsson; P Friberg; A Odén; G Stenström; G Hansson; O Stenquist; B Wängberg; L-E Tisell; S Jansson
Journal:  J Intern Med       Date:  2005-07       Impact factor: 8.989

3.  Predictors and prevalence of paraganglioma syndrome associated with mutations of the SDHC gene.

Authors:  Francesca Schiavi; Carsten C Boedeker; Birke Bausch; Mariola Peçzkowska; Clara Fuentes Gomez; Thomas Strassburg; Christian Pawlu; Mary Buchta; Maren Salzmann; Michael M Hoffmann; Ansgar Berlis; Ingo Brink; Markus Cybulla; Mihaela Muresan; Martin A Walter; Flavio Forrer; Matti Välimäki; Andrzej Kawecki; Zbigniew Szutkowski; Jörg Schipper; Martin K Walz; Pascal Pigny; Catherine Bauters; Joan E Willet-Brozick; Bora E Baysal; Andrzej Januszewicz; Charis Eng; Giuseppe Opocher; Hartmut P H Neumann
Journal:  JAMA       Date:  2005-10-26       Impact factor: 56.272

4.  Pheochromocytoma and paraganglioma in children: a review of medical and surgical management at a tertiary care center.

Authors:  Tuan H Pham; Christopher Moir; Geoffrey B Thompson; Abdalla E Zarroug; Chad E Hamner; David Farley; Jon van Heerden; Aida N Lteif; William F Young
Journal:  Pediatrics       Date:  2006-09       Impact factor: 7.124

5.  The occurrence of SDHB gene mutations in pheochromocytoma.

Authors:  Francien H Van Nederveen; Winand N M Dinjens; Esther Korpershoek; Ronald R De Krijger
Journal:  Ann N Y Acad Sci       Date:  2006-08       Impact factor: 5.691

Review 6.  Genetic testing in pheochromocytoma- and paraganglioma-associated syndromes.

Authors:  Diana E Benn; Anne Louise Richardson; Deborah J Marsh; Bruce G Robinson
Journal:  Ann N Y Acad Sci       Date:  2006-08       Impact factor: 5.691

7.  Novel pheochromocytoma susceptibility loci identified by integrative genomics.

Authors:  Patricia L M Dahia; Ke Hao; John Rogus; Christian Colin; Miguel A G Pujana; Ken Ross; Danielle Magoffin; Neil Aronin; Alberto Cascon; César Y Hayashida; Cheng Li; Sérgio P A Toledo; Charles D Stiles
Journal:  Cancer Res       Date:  2005-11-01       Impact factor: 12.701

8.  Genetic testing in pheochromocytoma or functional paraganglioma.

Authors:  Laurence Amar; Jérôme Bertherat; Eric Baudin; Christiane Ajzenberg; Brigitte Bressac-de Paillerets; Olivier Chabre; Bernard Chamontin; Brigitte Delemer; Sophie Giraud; Arnaud Murat; Patricia Niccoli-Sire; Stéphane Richard; Vincent Rohmer; Jean-Louis Sadoul; Laurence Strompf; Martin Schlumberger; Xavier Bertagna; Pierre-François Plouin; Xavier Jeunemaitre; Anne-Paule Gimenez-Roqueplo
Journal:  J Clin Oncol       Date:  2005-12-01       Impact factor: 44.544

9.  Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes.

Authors:  Diana E Benn; Anne-Paule Gimenez-Roqueplo; Jennifer R Reilly; Jérôme Bertherat; John Burgess; Karen Byth; Michael Croxson; Patricia L M Dahia; Marianne Elston; Oliver Gimm; David Henley; Philippe Herman; Victoria Murday; Patricia Niccoli-Sire; Janice L Pasieka; Vincent Rohmer; Kathy Tucker; Xavier Jeunemaitre; Deborah J Marsh; Pierre-François Plouin; Bruce G Robinson
Journal:  J Clin Endocrinol Metab       Date:  2005-11-29       Impact factor: 5.958

10.  Biochemical and clinical manifestations of dopamine-producing paragangliomas: utility of plasma methoxytyramine.

Authors:  Graeme Eisenhofer; David S Goldstein; Patricia Sullivan; Gyorgy Csako; Frederieke M Brouwers; Edwin W Lai; Karen T Adams; Karel Pacak
Journal:  J Clin Endocrinol Metab       Date:  2005-01-11       Impact factor: 5.958
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  33 in total

1.  [Rare case of a mesenteric tumor].

Authors:  T Kolokotronis; M Wagner; A Massmann; R M Bohle; M Glanemann; J Schuld
Journal:  Chirurg       Date:  2016-08       Impact factor: 0.955

Review 2.  Mitochondrial Complex II: At the Crossroads.

Authors:  Ayenachew Bezawork-Geleta; Jakub Rohlena; Lanfeng Dong; Karel Pacak; Jiri Neuzil
Journal:  Trends Biochem Sci       Date:  2017-02-07       Impact factor: 13.807

3.  Familiar Papillary Thyroid Carcinoma in a Large Brazilian Family Is Not Associated with Succinate Dehydrogenase Defects.

Authors:  Elen Dias Accordi; Paraskevi Xekouki; Bruna Azevedo; Rodrigo Bertollo de Alexandre; Carla Frasson; Siliane Marie Gantzel; Georgios Z Papadakis; Anna Angelousi; Constantine A Stratakis; Vanessa Santos Sotomaior; Fabio R Faucz
Journal:  Eur Thyroid J       Date:  2016-03-10

4.  SDHx-related pheochromocytoma/paraganglioma - genetic, clinical, and treatment outcomes in a series of 30 patients from a single center.

Authors:  Sara Donato; Helder Simões; Ana Teresa Pinto; Branca M Cavaco; Valeriano Leite
Journal:  Endocrine       Date:  2019-05-18       Impact factor: 3.633

5.  Pleuropulmonary tuberculosis with spinal lesions due to metastatic malignancy differentiated definitively on imaging.

Authors:  Justine Gibson; John Coucher; Chris Coulter; Geoffrey Eather
Journal:  BMJ Case Rep       Date:  2018-12-22

6.  Association of urinary bladder paragangliomas with germline mutations in the SDHB and VHL genes.

Authors:  Victoria L Martucci; Zarina G Lorenzo; Michael Weintraub; Jaydira del Rivero; Alexander Ling; Maria Merino; Minhaj Siddiqui; Brian Shuch; Srinivas Vourganti; W Marston Linehan; Piyush K Agarwal; Karel Pacak
Journal:  Urol Oncol       Date:  2015-02-13       Impact factor: 3.498

7.  Case - Bladder paraganglioma in a pediatric patient.

Authors:  Armaan K Malhotra; Ryan Yan; Raymond Tabeshi; Helen Nadel; Henry Tran; John Masterson
Journal:  Can Urol Assoc J       Date:  2018-02-06       Impact factor: 1.862

8.  Characterization of Malignant Head and Neck Paragangliomas at a Single Institution Across Multiple Decades.

Authors:  Hilary C McCrary; Eric Babajanian; Matias Calquin; Patrick Carpenter; Geoffrey Casazza; Anne Naumer; Samantha Greenberg; Wendy Kohlmann; Richard Cannon; Marcus M Monroe; Jason P Hunt; Luke Buchmann
Journal:  JAMA Otolaryngol Head Neck Surg       Date:  2019-07-01       Impact factor: 6.223

9.  Pheochromocytoma and paraganglioma syndromes: genetics and management update.

Authors:  M Lefebvre; W D Foulkes
Journal:  Curr Oncol       Date:  2014-02       Impact factor: 3.677

Review 10.  The 3PAs: An Update on the Association of Pheochromocytomas, Paragangliomas, and Pituitary Tumors.

Authors:  Paraskevi Xekouki; Ana Brennand; Ben Whitelaw; Karel Pacak; Constantine A Stratakis
Journal:  Horm Metab Res       Date:  2018-10-01       Impact factor: 2.936
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