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Head and neck paragangliomas in von Hippel-Lindau disease and multiple endocrine neoplasia type 2

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Head and neck paragangliomas in von Hippel-Lindau disease and multiple endocrine neoplasia type 2. / Boedeker, Carsten C; Erlic, Zoran; Richard, Stéphane; Kontny, Udo; Gimenez-Roqueplo, Anne-Paule; Cascon, Alberto; Robledo, Mercedes; de Campos, José M; van Nederveen, Francien H; de Krijger, Ronald R; Burnichon, Nelly; Gaal, José; Walter, Martin A; Reschke, Kirsten; Wiech, Thorsten; Weber, Johannes; Rückauer, Klaus; Plouin, Pierre Francois; Darrouzet, Vincent; Giraud, Sophie; Eng, Charis; Neumann, Hartmut P H.

In: J CLIN ENDOCR METAB, Vol. 94, No. 6, 01.06.2009, p. 1938-44.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Boedeker, CC, Erlic, Z, Richard, S, Kontny, U, Gimenez-Roqueplo, A-P, Cascon, A, Robledo, M, de Campos, JM, van Nederveen, FH, de Krijger, RR, Burnichon, N, Gaal, J, Walter, MA, Reschke, K, Wiech, T, Weber, J, Rückauer, K, Plouin, PF, Darrouzet, V, Giraud, S, Eng, C & Neumann, HPH 2009, 'Head and neck paragangliomas in von Hippel-Lindau disease and multiple endocrine neoplasia type 2', J CLIN ENDOCR METAB, vol. 94, no. 6, pp. 1938-44. https://doi.org/10.1210/jc.2009-0354

APA

Boedeker, C. C., Erlic, Z., Richard, S., Kontny, U., Gimenez-Roqueplo, A-P., Cascon, A., Robledo, M., de Campos, J. M., van Nederveen, F. H., de Krijger, R. R., Burnichon, N., Gaal, J., Walter, M. A., Reschke, K., Wiech, T., Weber, J., Rückauer, K., Plouin, P. F., Darrouzet, V., ... Neumann, H. P. H. (2009). Head and neck paragangliomas in von Hippel-Lindau disease and multiple endocrine neoplasia type 2. J CLIN ENDOCR METAB, 94(6), 1938-44. https://doi.org/10.1210/jc.2009-0354

Vancouver

Boedeker CC, Erlic Z, Richard S, Kontny U, Gimenez-Roqueplo A-P, Cascon A et al. Head and neck paragangliomas in von Hippel-Lindau disease and multiple endocrine neoplasia type 2. J CLIN ENDOCR METAB. 2009 Jun 1;94(6):1938-44. https://doi.org/10.1210/jc.2009-0354

Bibtex

@article{7061964149664bbe8ff297d724a4df17,
title = "Head and neck paragangliomas in von Hippel-Lindau disease and multiple endocrine neoplasia type 2",
abstract = "BACKGROUND: Head and neck paragangliomas (HNPs) occur as sporadic or familial entities, the latter mostly in association with germline mutations of the SDHB, SDHC, or SDHD (SDHx) genes. Heritable non-SDHx HNP might occur in von Hippel-Lindau disease (VHL, VHL gene), multiple endocrine neoplasia type 2 (MEN2, RET gene), and neurofibromatosis type 1 (NF1, NF1 gene). Reports of non-SDHx HNP presentations are scarce and guidance for genetic testing nonexistent.PATIENTS AND METHODS: An international consortium registered patients with HNPs and performed mutation analyses of the SDHx, VHL, and RET genes. Those with SDHx germline mutations were excluded for purposes of this study. Personal and family histories were evaluated for paraganglial tumors, for the major tumor manifestations, and for family history of VHL, MEN2, or NF1.RESULTS: Twelve patients were found to have hereditary non-SDHx HNPs of a total of 809 HNP and 2084 VHL registrants, 11 in the setting of germline VHL mutations and one of a RET mutation. The prevalence of hereditary HNP is five in 1000 VHL patients and nine in 1000 non-SDHx HNP patients. Comprehensive literature review revealed previous reports of HNPs in five VHL, two MEN2, and one NF1 patient. Overall, 11 here presented HNP cases, and four previously reported VHL-HNPs had lesions characteristic for VHL and/or a positive family history for VHL.CONCLUSIONS: Our observations provide evidence that molecular genetic testing for VHL or RET germline mutations in patients with HNP should be done only if personal and/or family history shows evidence for one of these syndromes.",
keywords = "Adolescent, Adult, DNA Mutational Analysis, Female, Genetic Testing, Head and Neck Neoplasms, Humans, Male, Membrane Proteins, Multiple Endocrine Neoplasia Type 2a, Paraganglioma, Succinate Dehydrogenase, Von Hippel-Lindau Tumor Suppressor Protein, Young Adult, von Hippel-Lindau Disease",
author = "Boedeker, {Carsten C} and Zoran Erlic and St{\'e}phane Richard and Udo Kontny and Anne-Paule Gimenez-Roqueplo and Alberto Cascon and Mercedes Robledo and {de Campos}, {Jos{\'e} M} and {van Nederveen}, {Francien H} and {de Krijger}, {Ronald R} and Nelly Burnichon and Jos{\'e} Gaal and Walter, {Martin A} and Kirsten Reschke and Thorsten Wiech and Johannes Weber and Klaus R{\"u}ckauer and Plouin, {Pierre Francois} and Vincent Darrouzet and Sophie Giraud and Charis Eng and Neumann, {Hartmut P H}",
year = "2009",
month = jun,
day = "1",
doi = "10.1210/jc.2009-0354",
language = "English",
volume = "94",
pages = "1938--44",
journal = "J CLIN ENDOCR METAB",
issn = "0021-972X",
publisher = "The Endocrine Society",
number = "6",

}

RIS

TY - JOUR

T1 - Head and neck paragangliomas in von Hippel-Lindau disease and multiple endocrine neoplasia type 2

AU - Boedeker, Carsten C

AU - Erlic, Zoran

AU - Richard, Stéphane

AU - Kontny, Udo

AU - Gimenez-Roqueplo, Anne-Paule

AU - Cascon, Alberto

AU - Robledo, Mercedes

AU - de Campos, José M

AU - van Nederveen, Francien H

AU - de Krijger, Ronald R

AU - Burnichon, Nelly

AU - Gaal, José

AU - Walter, Martin A

AU - Reschke, Kirsten

AU - Wiech, Thorsten

AU - Weber, Johannes

AU - Rückauer, Klaus

AU - Plouin, Pierre Francois

AU - Darrouzet, Vincent

AU - Giraud, Sophie

AU - Eng, Charis

AU - Neumann, Hartmut P H

PY - 2009/6/1

Y1 - 2009/6/1

N2 - BACKGROUND: Head and neck paragangliomas (HNPs) occur as sporadic or familial entities, the latter mostly in association with germline mutations of the SDHB, SDHC, or SDHD (SDHx) genes. Heritable non-SDHx HNP might occur in von Hippel-Lindau disease (VHL, VHL gene), multiple endocrine neoplasia type 2 (MEN2, RET gene), and neurofibromatosis type 1 (NF1, NF1 gene). Reports of non-SDHx HNP presentations are scarce and guidance for genetic testing nonexistent.PATIENTS AND METHODS: An international consortium registered patients with HNPs and performed mutation analyses of the SDHx, VHL, and RET genes. Those with SDHx germline mutations were excluded for purposes of this study. Personal and family histories were evaluated for paraganglial tumors, for the major tumor manifestations, and for family history of VHL, MEN2, or NF1.RESULTS: Twelve patients were found to have hereditary non-SDHx HNPs of a total of 809 HNP and 2084 VHL registrants, 11 in the setting of germline VHL mutations and one of a RET mutation. The prevalence of hereditary HNP is five in 1000 VHL patients and nine in 1000 non-SDHx HNP patients. Comprehensive literature review revealed previous reports of HNPs in five VHL, two MEN2, and one NF1 patient. Overall, 11 here presented HNP cases, and four previously reported VHL-HNPs had lesions characteristic for VHL and/or a positive family history for VHL.CONCLUSIONS: Our observations provide evidence that molecular genetic testing for VHL or RET germline mutations in patients with HNP should be done only if personal and/or family history shows evidence for one of these syndromes.

AB - BACKGROUND: Head and neck paragangliomas (HNPs) occur as sporadic or familial entities, the latter mostly in association with germline mutations of the SDHB, SDHC, or SDHD (SDHx) genes. Heritable non-SDHx HNP might occur in von Hippel-Lindau disease (VHL, VHL gene), multiple endocrine neoplasia type 2 (MEN2, RET gene), and neurofibromatosis type 1 (NF1, NF1 gene). Reports of non-SDHx HNP presentations are scarce and guidance for genetic testing nonexistent.PATIENTS AND METHODS: An international consortium registered patients with HNPs and performed mutation analyses of the SDHx, VHL, and RET genes. Those with SDHx germline mutations were excluded for purposes of this study. Personal and family histories were evaluated for paraganglial tumors, for the major tumor manifestations, and for family history of VHL, MEN2, or NF1.RESULTS: Twelve patients were found to have hereditary non-SDHx HNPs of a total of 809 HNP and 2084 VHL registrants, 11 in the setting of germline VHL mutations and one of a RET mutation. The prevalence of hereditary HNP is five in 1000 VHL patients and nine in 1000 non-SDHx HNP patients. Comprehensive literature review revealed previous reports of HNPs in five VHL, two MEN2, and one NF1 patient. Overall, 11 here presented HNP cases, and four previously reported VHL-HNPs had lesions characteristic for VHL and/or a positive family history for VHL.CONCLUSIONS: Our observations provide evidence that molecular genetic testing for VHL or RET germline mutations in patients with HNP should be done only if personal and/or family history shows evidence for one of these syndromes.

KW - Adolescent

KW - Adult

KW - DNA Mutational Analysis

KW - Female

KW - Genetic Testing

KW - Head and Neck Neoplasms

KW - Humans

KW - Male

KW - Membrane Proteins

KW - Multiple Endocrine Neoplasia Type 2a

KW - Paraganglioma

KW - Succinate Dehydrogenase

KW - Von Hippel-Lindau Tumor Suppressor Protein

KW - Young Adult

KW - von Hippel-Lindau Disease

U2 - 10.1210/jc.2009-0354

DO - 10.1210/jc.2009-0354

M3 - SCORING: Journal article

C2 - 19336503

VL - 94

SP - 1938

EP - 1944

JO - J CLIN ENDOCR METAB

JF - J CLIN ENDOCR METAB

SN - 0021-972X

IS - 6

ER -