New genetic causes of pheochromocytoma : current concepts and the clinical relevance
スポンサーリンク
概要
- 論文の詳細を見る
Pheochromocytoma and paraganglioma are tumors of the autonomous nervous system mainly occurring in the adrenal medulla, but also in the extraadrenal paraganglias of the abdomen, thorax, neck and skull basis. The etiology comprises germline mutations of now 6 genes. About 10 years known are the RET gene susceptible for multiple endocrine neoplasia type 2, the VHL gene for von Hippel-Lindau Disease, and the NF 1 gene for neurofibromatosis Recklinghausen (neurofibromatosis type 1). Since 2000 the genes for succinatedehydrogenase subunits SDHB, SDHC, and SDHD have been identified for paraganglioma syndromes type 4, type 3, and type 1 respectively. Investigations of series of pheochromocytoma patients identified germline mutations in one of the genes SDHB, SDHD, VHL and RET in 24% to 50% of the patients. Multifocal tumors, young age and positive family history, known features associated with inheritence, have not been present in all patients. Therefore, analyses of blood DNA for mutations in these genes are recommended. Positive tests provide the patients and their relatives with essential platforms for clinical care. Experiences in this field of medicine have shown that optimal management of patients with pheochromocytoma-associated syndromes is a high challenge. National registries may be instrumental in order to provide with adequate facilities.
- The Keio Journal of Medicineの論文
- 2005-03-01
著者
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TERACHI Toshiro
Department of Urology, Kyoto University Graduate School of Medicine
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Shuin Taro
Department Of Urology Kochi Medical School
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Takami Hiroshi
Department of Cardiology, Osaka Medical Center for Cancer and Cardiovascular Diseases
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HIGASHIHARA Eiji
Department of Urology, Kyorin University School of Medicine
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OYA Mototsugu
Department of Urology, Keio University School of Medicine
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MURAI Masaru
Department of Urology, Keio University School of Medicine
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Shuin Taro
Department Of Urology And Pathology I Kochi Medical School
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Terachi Toshiro
Department Of Urology Tokai University
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Terachi Toshiro
Department Of Urology Faculty Of Medicine Kyoto University
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Naruse Mitsuhide
Department Of Medicine Tokyo Women's Medical University
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Naruse Mitsuhide
Department Of Endocrinology Kyoto Medical Center
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NEUMANN Hartmut
Department of Medicine, Albert-Ludwigs-University
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CYBULLA Markus
Department of Medicine, Albert-Ludwigs-University
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SHIBATA Hirotaka
Department of Endocrinology, Health Center and Department of Internal Medicine, School of Medicine,
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LING Hao
Department of Medicine, Albert-Ludwigs-University
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Shibata Hirotaka
Department Of Endocrinology Health Center And Department Of Internal Medicine School Of Medicine Kei
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Takami Hiroshi
Department Of Surgery Teikyo University
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Ling Hao
Department Of Medicine Albert-ludwigs-university
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Murai Masaru
Department Of Urology Keio University School Of Medicine
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Oya Mototsugu
Department Of Urology Heinrich-heine-universitat
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Cybulla Markus
Department Of Medicine Albert-ludwigs-university
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Higashihara Eiji
Department Of Urology Faculty Of Medicine The University Of Tokyo
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Higashihara Eiji
Department Of Urology Kyorin University
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Oya Mototsugu
Department Of Urology School Of Medicine Keio University
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Neumann Hartmut
Department Of Medicine Albert-ludwigs-university
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Shibata Hirotaka
Department Of Clinical And Molecular Endocrinology Tokyo Medical And Dental University Graduate Scho
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Takami Hiroshi
Department Of Cardiology Osaka Medical Center For Cancer And Cardiovascular Diseases
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Murai Masaru
Department Of Public Health Sapporo Medical University School Of Medicine
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Naruse Mitsuhide
Department of Endocrinology and Metabolism, National Hospital Organization Kyoto Medical Center
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