New genetic causes of pheochromocytoma: Current concepts and the clinical relevance

Hartmut P.H. Neumann, Markus Cybulla, Hirotaka Shibata, Mototsugu Oya, Mitsuhide Naruse, Eiji Higashihara, Toshiro Terachi, Hao Ling, Hiroshi Takami, Taro Shuin, Masaru Murai

研究成果: Review article査読

21 被引用数 (Scopus)


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.

ジャーナルKeio Journal of Medicine
出版ステータスPublished - 2005 3月

ASJC Scopus subject areas

  • 医学一般


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