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

doi:10.1055/s-0032-1311610

Hormone and Metabolic Research, Inhaltsverzeichnis

Horm Metab Res 2012; 44(05): 349-353
DOI: 10.1055/s-0032-1311610

Humans, Clinical

Prevalence and Spectrum of SDHx Mutations in Pheochromocytoma and Paraganglioma in Patients from Belgium: An Update

A. Persu

¹Pole of Cardiovascular Research, Institut de Recherche Expérimentale et Clinique, Université Catholique de Louvain, Brussels, Belgium

²Cardiology Department, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium

,

N. Lannoy

³Center of Human Genetics, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium

,

D. Maiter

⁴Endocrinology Department, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium

,

A. Mendola

⁵Laboratory of Human Molecular Genetics, de Duve Institute, Université Catholique de Louvain, Brussels, Belgium

,

P. Montigny

¹Pole of Cardiovascular Research, Institut de Recherche Expérimentale et Clinique, Université Catholique de Louvain, Brussels, Belgium

,

P. Oriot

⁶Endocrinology Department, Mouscron Hospital, Mouscron, Belgium

,

W. Vinck

⁷Endocrinology Department, Sint-Augustinus Hospital, Wilrijk, Belgium

,

P. Garin

⁸Otolaryngology Department, Cliniques Universitaires de Mont-Godinne, Université Catholique de Louvain, Yvoir, Belgium

,

M. Hamoir

⁹Otolaryngology Department, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium

,

M. Vikkula

³Center of Human Genetics, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium

⁵Laboratory of Human Molecular Genetics, de Duve Institute, Université Catholique de Louvain, Brussels, Belgium

› Institutsangaben

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.

Key words

SDHD - SDHB - SDHC - VHL - glomic tumors - adrenal tumors

Volltext

Referenzen

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