High prevalence of SDHB mutations in head and neck paraganglioma in Belgium

Alexandre Persu, Marc Hamoir, Vincent Grégoire, Pierre Garin, Etienne Duvivier, Hervé Reychler, Gilbert Chantrain, Geert Mortier, Michel Mourad, Dominique Maiter, Miikka Vikkula

Research output: Contribution to journalArticle

Abstract

BACKGROUND: Recent reports have found genetic mutations in up to one quarter of patients harbouring pheochromocytoma and/or paraganglioma. This high prevalence was mainly due to the discovery of the role of SDH genes. While SDHD has been more frequently associated with the pathogenesis of head and neck paragangliomas, SDHB mutations were mainly associated with malignant and/or extra-adrenal pheochromocytoma/paraganglioma. OBJECTIVE: To look for mutations in susceptibility genes and genotype-phenotype correlations in patients with pheochromocytoma and/or paraganglioma from Belgium. METHODS: Screening of the coding parts of SDH, VHL and RET genes was performed by SSCP in patients with pheochromocytoma and/or paraganglioma diagnosed at or referred to the Cliniques Universitaires Saint Luc from May 2003 to May 2006. RESULTS: Fifty-six unrelated patients were included (36 head and neck paragangliomas, including six familial cases and 30 sporadic cases; 18 abdominal pheochromocytoma/paraganglioma and two paraganglioma of the cauda equina). The overall prevalence of mutations was 41% (n = 23 including 19 head and neck paragangliomas and four abdominal pheochromocytoma/paraganglioma), mainly due to SDH mutations. While SDHD mutations were found in all patients with familial head and neck paragangliomas, in sporadic cases, the prevalence of SDHB mutations (n = 8, 27%) was twice that of SDHD mutations (n = 4, 13%). Patients harbouring SDHB mutations had unilateral late-onset head and neck tumours without evidence of recurrence or malignancy. CONCLUSION: This Belgian series confirms the elevated prevalence of predisposing mutations in patients with head and neck and extra-adrenal paragangliomas, but differs from previous reports by the high frequency of SDHB mutations associated with head and neck paragangliomas without evidence of recurrence or malignancy.

Original languageEnglish
Pages (from-to)1395-1401
Number of pages7
JournalJournal of Hypertension
Volume26
Issue number7
DOIs
Publication statusPublished - 1 Jul 2008
Externally publishedYes

Fingerprint

Paraganglioma
Belgium
Neck
Head
Mutation
Pheochromocytoma
Extra-Adrenal Paraganglioma
Genes
Cauda Equina
Recurrence
Single-Stranded Conformational Polymorphism
Neoplasms
Genetic Association Studies
Mutation Rate

Keywords

  • Paraganglioma
  • Pheochromocytoma
  • Respiratory chain
  • RET
  • SDHB
  • SDHD
  • VHL

Cite this

Persu, A., Hamoir, M., Grégoire, V., Garin, P., Duvivier, E., Reychler, H., ... Vikkula, M. (2008). High prevalence of SDHB mutations in head and neck paraganglioma in Belgium. Journal of Hypertension, 26(7), 1395-1401. https://doi.org/10.1097/HJH.0b013e3282ffdc54
Persu, Alexandre ; Hamoir, Marc ; Grégoire, Vincent ; Garin, Pierre ; Duvivier, Etienne ; Reychler, Hervé ; Chantrain, Gilbert ; Mortier, Geert ; Mourad, Michel ; Maiter, Dominique ; Vikkula, Miikka. / High prevalence of SDHB mutations in head and neck paraganglioma in Belgium. In: Journal of Hypertension. 2008 ; Vol. 26, No. 7. pp. 1395-1401.
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abstract = "BACKGROUND: Recent reports have found genetic mutations in up to one quarter of patients harbouring pheochromocytoma and/or paraganglioma. This high prevalence was mainly due to the discovery of the role of SDH genes. While SDHD has been more frequently associated with the pathogenesis of head and neck paragangliomas, SDHB mutations were mainly associated with malignant and/or extra-adrenal pheochromocytoma/paraganglioma. OBJECTIVE: To look for mutations in susceptibility genes and genotype-phenotype correlations in patients with pheochromocytoma and/or paraganglioma from Belgium. METHODS: Screening of the coding parts of SDH, VHL and RET genes was performed by SSCP in patients with pheochromocytoma and/or paraganglioma diagnosed at or referred to the Cliniques Universitaires Saint Luc from May 2003 to May 2006. RESULTS: Fifty-six unrelated patients were included (36 head and neck paragangliomas, including six familial cases and 30 sporadic cases; 18 abdominal pheochromocytoma/paraganglioma and two paraganglioma of the cauda equina). The overall prevalence of mutations was 41{\%} (n = 23 including 19 head and neck paragangliomas and four abdominal pheochromocytoma/paraganglioma), mainly due to SDH mutations. While SDHD mutations were found in all patients with familial head and neck paragangliomas, in sporadic cases, the prevalence of SDHB mutations (n = 8, 27{\%}) was twice that of SDHD mutations (n = 4, 13{\%}). Patients harbouring SDHB mutations had unilateral late-onset head and neck tumours without evidence of recurrence or malignancy. CONCLUSION: This Belgian series confirms the elevated prevalence of predisposing mutations in patients with head and neck and extra-adrenal paragangliomas, but differs from previous reports by the high frequency of SDHB mutations associated with head and neck paragangliomas without evidence of recurrence or malignancy.",
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Persu, A, Hamoir, M, Grégoire, V, Garin, P, Duvivier, E, Reychler, H, Chantrain, G, Mortier, G, Mourad, M, Maiter, D & Vikkula, M 2008, 'High prevalence of SDHB mutations in head and neck paraganglioma in Belgium', Journal of Hypertension, vol. 26, no. 7, pp. 1395-1401. https://doi.org/10.1097/HJH.0b013e3282ffdc54

High prevalence of SDHB mutations in head and neck paraganglioma in Belgium. / Persu, Alexandre; Hamoir, Marc; Grégoire, Vincent; Garin, Pierre; Duvivier, Etienne; Reychler, Hervé; Chantrain, Gilbert; Mortier, Geert; Mourad, Michel; Maiter, Dominique; Vikkula, Miikka.

In: Journal of Hypertension, Vol. 26, No. 7, 01.07.2008, p. 1395-1401.

Research output: Contribution to journalArticle

TY - JOUR

T1 - High prevalence of SDHB mutations in head and neck paraganglioma in Belgium

AU - Persu, Alexandre

AU - Hamoir, Marc

AU - Grégoire, Vincent

AU - Garin, Pierre

AU - Duvivier, Etienne

AU - Reychler, Hervé

AU - Chantrain, Gilbert

AU - Mortier, Geert

AU - Mourad, Michel

AU - Maiter, Dominique

AU - Vikkula, Miikka

PY - 2008/7/1

Y1 - 2008/7/1

N2 - BACKGROUND: Recent reports have found genetic mutations in up to one quarter of patients harbouring pheochromocytoma and/or paraganglioma. This high prevalence was mainly due to the discovery of the role of SDH genes. While SDHD has been more frequently associated with the pathogenesis of head and neck paragangliomas, SDHB mutations were mainly associated with malignant and/or extra-adrenal pheochromocytoma/paraganglioma. OBJECTIVE: To look for mutations in susceptibility genes and genotype-phenotype correlations in patients with pheochromocytoma and/or paraganglioma from Belgium. METHODS: Screening of the coding parts of SDH, VHL and RET genes was performed by SSCP in patients with pheochromocytoma and/or paraganglioma diagnosed at or referred to the Cliniques Universitaires Saint Luc from May 2003 to May 2006. RESULTS: Fifty-six unrelated patients were included (36 head and neck paragangliomas, including six familial cases and 30 sporadic cases; 18 abdominal pheochromocytoma/paraganglioma and two paraganglioma of the cauda equina). The overall prevalence of mutations was 41% (n = 23 including 19 head and neck paragangliomas and four abdominal pheochromocytoma/paraganglioma), mainly due to SDH mutations. While SDHD mutations were found in all patients with familial head and neck paragangliomas, in sporadic cases, the prevalence of SDHB mutations (n = 8, 27%) was twice that of SDHD mutations (n = 4, 13%). Patients harbouring SDHB mutations had unilateral late-onset head and neck tumours without evidence of recurrence or malignancy. CONCLUSION: This Belgian series confirms the elevated prevalence of predisposing mutations in patients with head and neck and extra-adrenal paragangliomas, but differs from previous reports by the high frequency of SDHB mutations associated with head and neck paragangliomas without evidence of recurrence or malignancy.

AB - BACKGROUND: Recent reports have found genetic mutations in up to one quarter of patients harbouring pheochromocytoma and/or paraganglioma. This high prevalence was mainly due to the discovery of the role of SDH genes. While SDHD has been more frequently associated with the pathogenesis of head and neck paragangliomas, SDHB mutations were mainly associated with malignant and/or extra-adrenal pheochromocytoma/paraganglioma. OBJECTIVE: To look for mutations in susceptibility genes and genotype-phenotype correlations in patients with pheochromocytoma and/or paraganglioma from Belgium. METHODS: Screening of the coding parts of SDH, VHL and RET genes was performed by SSCP in patients with pheochromocytoma and/or paraganglioma diagnosed at or referred to the Cliniques Universitaires Saint Luc from May 2003 to May 2006. RESULTS: Fifty-six unrelated patients were included (36 head and neck paragangliomas, including six familial cases and 30 sporadic cases; 18 abdominal pheochromocytoma/paraganglioma and two paraganglioma of the cauda equina). The overall prevalence of mutations was 41% (n = 23 including 19 head and neck paragangliomas and four abdominal pheochromocytoma/paraganglioma), mainly due to SDH mutations. While SDHD mutations were found in all patients with familial head and neck paragangliomas, in sporadic cases, the prevalence of SDHB mutations (n = 8, 27%) was twice that of SDHD mutations (n = 4, 13%). Patients harbouring SDHB mutations had unilateral late-onset head and neck tumours without evidence of recurrence or malignancy. CONCLUSION: This Belgian series confirms the elevated prevalence of predisposing mutations in patients with head and neck and extra-adrenal paragangliomas, but differs from previous reports by the high frequency of SDHB mutations associated with head and neck paragangliomas without evidence of recurrence or malignancy.

KW - Paraganglioma

KW - Pheochromocytoma

KW - Respiratory chain

KW - RET

KW - SDHB

KW - SDHD

KW - VHL

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DO - 10.1097/HJH.0b013e3282ffdc54

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JO - Journal of Hypertension

JF - Journal of Hypertension

SN - 0263-6352

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