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

Research output: Contribution to journalArticle

16 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)15-21
Number of pages7
JournalKeio Journal of Medicine
Volume54
Issue number1
DOIs
Publication statusPublished - 2005 Mar

Fingerprint

Pheochromocytoma
Genes
Germ-Line Mutation
Neurofibromatosis 1 Genes
Nervous System Neoplasms
Multiple Endocrine Neoplasia Type 2a
von Hippel-Lindau Disease
Paraganglioma
Neurofibromatosis 1
Adrenal Medulla
Skull
Abdomen
Registries
Neck
Thorax
Medicine
Mutation
DNA
Neoplasms

Keywords

  • Genes of succinatedehydrogenase subunits B
  • Genes of succinatedehydrogenase subunits D
  • Paraganglioma
  • Paraganglioma syndromes
  • Pheochromocytoma

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Neumann, H. P. H., Cybulla, M., Shibata, H., Oya, M., Naruse, M., Higashihara, E., ... Murai, M. (2005). New genetic causes of pheochromocytoma: Current concepts and the clinical relevance. Keio Journal of Medicine, 54(1), 15-21. https://doi.org/10.2302/kjm.54.15

New genetic causes of pheochromocytoma : Current concepts and the clinical relevance. / Neumann, Hartmut P H; Cybulla, Markus; Shibata, Hirotaka; Oya, Mototsugu; Naruse, Mitsuhide; Higashihara, Eiji; Terachi, Toshiro; Ling, Hao; Takami, Hiroshi; Shuin, Taro; Murai, Masaru.

In: Keio Journal of Medicine, Vol. 54, No. 1, 03.2005, p. 15-21.

Research output: Contribution to journalArticle

Neumann, HPH, Cybulla, M, Shibata, H, Oya, M, Naruse, M, Higashihara, E, Terachi, T, Ling, H, Takami, H, Shuin, T & Murai, M 2005, 'New genetic causes of pheochromocytoma: Current concepts and the clinical relevance', Keio Journal of Medicine, vol. 54, no. 1, pp. 15-21. https://doi.org/10.2302/kjm.54.15
Neumann, Hartmut P H ; Cybulla, Markus ; Shibata, Hirotaka ; Oya, Mototsugu ; Naruse, Mitsuhide ; Higashihara, Eiji ; Terachi, Toshiro ; Ling, Hao ; Takami, Hiroshi ; Shuin, Taro ; Murai, Masaru. / New genetic causes of pheochromocytoma : Current concepts and the clinical relevance. In: Keio Journal of Medicine. 2005 ; Vol. 54, No. 1. pp. 15-21.
@article{49368ab7584f45ba9b070c7caf79a7db,
title = "New genetic causes of pheochromocytoma: Current concepts and the clinical relevance",
abstract = "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.",
keywords = "Genes of succinatedehydrogenase subunits B, Genes of succinatedehydrogenase subunits D, Paraganglioma, Paraganglioma syndromes, Pheochromocytoma",
author = "Neumann, {Hartmut P H} and Markus Cybulla and Hirotaka Shibata and Mototsugu Oya and Mitsuhide Naruse and Eiji Higashihara and Toshiro Terachi and Hao Ling and Hiroshi Takami and Taro Shuin and Masaru Murai",
year = "2005",
month = "3",
doi = "10.2302/kjm.54.15",
language = "English",
volume = "54",
pages = "15--21",
journal = "Keio Journal of Medicine",
issn = "0022-9717",
publisher = "Keio University School of Medicine",
number = "1",

}

TY - JOUR

T1 - New genetic causes of pheochromocytoma

T2 - Current concepts and the clinical relevance

AU - Neumann, Hartmut P H

AU - Cybulla, Markus

AU - Shibata, Hirotaka

AU - Oya, Mototsugu

AU - Naruse, Mitsuhide

AU - Higashihara, Eiji

AU - Terachi, Toshiro

AU - Ling, Hao

AU - Takami, Hiroshi

AU - Shuin, Taro

AU - Murai, Masaru

PY - 2005/3

Y1 - 2005/3

N2 - 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.

AB - 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.

KW - Genes of succinatedehydrogenase subunits B

KW - Genes of succinatedehydrogenase subunits D

KW - Paraganglioma

KW - Paraganglioma syndromes

KW - Pheochromocytoma

UR - http://www.scopus.com/inward/record.url?scp=20144388421&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=20144388421&partnerID=8YFLogxK

U2 - 10.2302/kjm.54.15

DO - 10.2302/kjm.54.15

M3 - Article

C2 - 15832076

AN - SCOPUS:20144388421

VL - 54

SP - 15

EP - 21

JO - Keio Journal of Medicine

JF - Keio Journal of Medicine

SN - 0022-9717

IS - 1

ER -