Prevalence and spectrum of SDHx mutations in pheochromocytoma and paraganglioma in patients from Belgium: An update

A. Persu, N. Lannoy, D. Maiter, A. Mendola, P. Montigny, P. Oriot, W. Vinck, P. Garin, M. Hamoir, M. Vikkula

Research output: Contribution to journalReview article

Abstract

Since the early 2000s, the prevalence and spectrum of mutations in genes encoding subunits of succinate dehydrogenase (SDHx) were reported in large cohorts of patients with pheochromocytoma (PC) and paraganglioma (PGL) from most Western countries. Unfortunately, in Belgium, no equivalent work was performed thus far. Therefore, the aim of the work was to look for mutations in SDHx genes and genotype-phenotype correlations in patients with PC and/or PGL from Belgium. Screening of the coding parts of SDHx genes and deletion search were performed in all patients with PC and/or PGL referred to the Cliniques Universitaires Saint-Luc from 05/2003 to 05/2011. Genetic screening was performed in 59 unrelated head and neck (hn)PGLs (8 familial) and 53 PCs (7 extra-adrenal; 3 metastatic). In hnPGLs, 10 different SDHD mutations (3 substitutions, 5 deletions, 2 splice site mutations) were detected in 16 patients, including 7 familial cases and 9 apparently sporadic cases. In the same subset, we found 8 different SDHB mutations (5 substitutions, 1 splice site mutation, 1 deletion, 1 duplication) in 10 patients with sporadic hnPGL without evidence of malignancy. No SDHx mutation was detected in patients harboring PCs and no SDHC mutation whatsoever. In conclusion, in our multicentric database of PC-PGLs from Belgium, (i) the prevalence of SDHx mutations was high in hnPGLs (44% in the whole subset, 37% of apparently sporadic cases); (ii) in sporadic cases, the prevalence of SDHB mutations was high (20%), similar to that of SDHD (18%); and (iii) no SDHx mutation was found in a subset of mostly adrenal, benign PCs.

Original languageEnglish
Pages (from-to)349-353
Number of pages5
JournalHormone and Metabolic Research
Volume44
Issue number5
DOIs
Publication statusPublished - 8 May 2012
Externally publishedYes

Fingerprint

Paraganglioma
Belgium
Pheochromocytoma
Screening
Substitution reactions
Genes
Mutation
Gene encoding
Succinate Dehydrogenase
Saints
Sequence Deletion
Gene Deletion
Genetic Testing
Genetic Association Studies
Neck
Head
Databases

Keywords

  • adrenal tumors
  • glomic tumors
  • SDHB
  • SDHC
  • SDHD
  • VHL

Cite this

Persu, A. ; Lannoy, N. ; Maiter, D. ; Mendola, A. ; Montigny, P. ; Oriot, P. ; Vinck, W. ; Garin, P. ; Hamoir, M. ; Vikkula, M. / Prevalence and spectrum of SDHx mutations in pheochromocytoma and paraganglioma in patients from Belgium : An update. In: Hormone and Metabolic Research. 2012 ; Vol. 44, No. 5. pp. 349-353.
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abstract = "Since the early 2000s, the prevalence and spectrum of mutations in genes encoding subunits of succinate dehydrogenase (SDHx) were reported in large cohorts of patients with pheochromocytoma (PC) and paraganglioma (PGL) from most Western countries. Unfortunately, in Belgium, no equivalent work was performed thus far. Therefore, the aim of the work was to look for mutations in SDHx genes and genotype-phenotype correlations in patients with PC and/or PGL from Belgium. Screening of the coding parts of SDHx genes and deletion search were performed in all patients with PC and/or PGL referred to the Cliniques Universitaires Saint-Luc from 05/2003 to 05/2011. Genetic screening was performed in 59 unrelated head and neck (hn)PGLs (8 familial) and 53 PCs (7 extra-adrenal; 3 metastatic). In hnPGLs, 10 different SDHD mutations (3 substitutions, 5 deletions, 2 splice site mutations) were detected in 16 patients, including 7 familial cases and 9 apparently sporadic cases. In the same subset, we found 8 different SDHB mutations (5 substitutions, 1 splice site mutation, 1 deletion, 1 duplication) in 10 patients with sporadic hnPGL without evidence of malignancy. No SDHx mutation was detected in patients harboring PCs and no SDHC mutation whatsoever. In conclusion, in our multicentric database of PC-PGLs from Belgium, (i) the prevalence of SDHx mutations was high in hnPGLs (44{\%} in the whole subset, 37{\%} of apparently sporadic cases); (ii) in sporadic cases, the prevalence of SDHB mutations was high (20{\%}), similar to that of SDHD (18{\%}); and (iii) no SDHx mutation was found in a subset of mostly adrenal, benign PCs.",
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Persu, A, Lannoy, N, Maiter, D, Mendola, A, Montigny, P, Oriot, P, Vinck, W, Garin, P, Hamoir, M & Vikkula, M 2012, 'Prevalence and spectrum of SDHx mutations in pheochromocytoma and paraganglioma in patients from Belgium: An update', Hormone and Metabolic Research, vol. 44, no. 5, pp. 349-353. https://doi.org/10.1055/s-0032-1311610

Prevalence and spectrum of SDHx mutations in pheochromocytoma and paraganglioma in patients from Belgium : An update. / Persu, A.; Lannoy, N.; Maiter, D.; Mendola, A.; Montigny, P.; Oriot, P.; Vinck, W.; Garin, P.; Hamoir, M.; Vikkula, M.

In: Hormone and Metabolic Research, Vol. 44, No. 5, 08.05.2012, p. 349-353.

Research output: Contribution to journalReview article

TY - JOUR

T1 - Prevalence and spectrum of SDHx mutations in pheochromocytoma and paraganglioma in patients from Belgium

T2 - An update

AU - Persu, A.

AU - Lannoy, N.

AU - Maiter, D.

AU - Mendola, A.

AU - Montigny, P.

AU - Oriot, P.

AU - Vinck, W.

AU - Garin, P.

AU - Hamoir, M.

AU - Vikkula, M.

PY - 2012/5/8

Y1 - 2012/5/8

N2 - Since the early 2000s, the prevalence and spectrum of mutations in genes encoding subunits of succinate dehydrogenase (SDHx) were reported in large cohorts of patients with pheochromocytoma (PC) and paraganglioma (PGL) from most Western countries. Unfortunately, in Belgium, no equivalent work was performed thus far. Therefore, the aim of the work was to look for mutations in SDHx genes and genotype-phenotype correlations in patients with PC and/or PGL from Belgium. Screening of the coding parts of SDHx genes and deletion search were performed in all patients with PC and/or PGL referred to the Cliniques Universitaires Saint-Luc from 05/2003 to 05/2011. Genetic screening was performed in 59 unrelated head and neck (hn)PGLs (8 familial) and 53 PCs (7 extra-adrenal; 3 metastatic). In hnPGLs, 10 different SDHD mutations (3 substitutions, 5 deletions, 2 splice site mutations) were detected in 16 patients, including 7 familial cases and 9 apparently sporadic cases. In the same subset, we found 8 different SDHB mutations (5 substitutions, 1 splice site mutation, 1 deletion, 1 duplication) in 10 patients with sporadic hnPGL without evidence of malignancy. No SDHx mutation was detected in patients harboring PCs and no SDHC mutation whatsoever. In conclusion, in our multicentric database of PC-PGLs from Belgium, (i) the prevalence of SDHx mutations was high in hnPGLs (44% in the whole subset, 37% of apparently sporadic cases); (ii) in sporadic cases, the prevalence of SDHB mutations was high (20%), similar to that of SDHD (18%); and (iii) no SDHx mutation was found in a subset of mostly adrenal, benign PCs.

AB - Since the early 2000s, the prevalence and spectrum of mutations in genes encoding subunits of succinate dehydrogenase (SDHx) were reported in large cohorts of patients with pheochromocytoma (PC) and paraganglioma (PGL) from most Western countries. Unfortunately, in Belgium, no equivalent work was performed thus far. Therefore, the aim of the work was to look for mutations in SDHx genes and genotype-phenotype correlations in patients with PC and/or PGL from Belgium. Screening of the coding parts of SDHx genes and deletion search were performed in all patients with PC and/or PGL referred to the Cliniques Universitaires Saint-Luc from 05/2003 to 05/2011. Genetic screening was performed in 59 unrelated head and neck (hn)PGLs (8 familial) and 53 PCs (7 extra-adrenal; 3 metastatic). In hnPGLs, 10 different SDHD mutations (3 substitutions, 5 deletions, 2 splice site mutations) were detected in 16 patients, including 7 familial cases and 9 apparently sporadic cases. In the same subset, we found 8 different SDHB mutations (5 substitutions, 1 splice site mutation, 1 deletion, 1 duplication) in 10 patients with sporadic hnPGL without evidence of malignancy. No SDHx mutation was detected in patients harboring PCs and no SDHC mutation whatsoever. In conclusion, in our multicentric database of PC-PGLs from Belgium, (i) the prevalence of SDHx mutations was high in hnPGLs (44% in the whole subset, 37% of apparently sporadic cases); (ii) in sporadic cases, the prevalence of SDHB mutations was high (20%), similar to that of SDHD (18%); and (iii) no SDHx mutation was found in a subset of mostly adrenal, benign PCs.

KW - adrenal tumors

KW - glomic tumors

KW - SDHB

KW - SDHC

KW - SDHD

KW - VHL

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