scholarly journals Radiological Surveillance Screening in Asymptomatic Succinate Dehydrogenase Mutation Carriers

2017 ◽  
Vol 1 (7) ◽  
pp. 897-907 ◽  
Author(s):  
Nicola Tufton ◽  
Anju Sahdev ◽  
Scott A. Akker
Keyword(s):  
Succinate Dehydrogenase ◽  
Mutation Carriers ◽  
Succinate Dehydrogenase Mutation

scholarly journals Tumour risks and genotype–phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD

2018 ◽  
Vol 55 (6) ◽  
pp. 384-394 ◽  
Author(s):  
Katrina A Andrews ◽  
David B Ascher ◽  
Douglas Eduardo Valente Pires ◽  
Daniel R Barnes ◽  
Lindsey Vialard ◽  
...  
Keyword(s):  
Succinate Dehydrogenase ◽  
Phenotypic Variability ◽  
Cohort Analysis ◽  
Cumulative Risk ◽  
Clinical Information ◽  
Missense Mutations ◽  
Pathogenic Variants ◽  
Mutation Carriers ◽  
Kaplan Meier ◽  
Age Related

BackgroundGermline pathogenic variants in SDHB/SDHC/SDHD are the most frequent causes of inherited phaeochromocytomas/paragangliomas. Insufficient information regarding penetrance and phenotypic variability hinders optimum management of mutation carriers. We estimate penetrance for symptomatic tumours and elucidate genotype–phenotype correlations in a large cohort of SDHB/SDHC/SDHD mutation carriers.MethodsA retrospective survey of 1832 individuals referred for genetic testing due to a personal or family history of phaeochromocytoma/paraganglioma. 876 patients (401 previously reported) had a germline mutation in SDHB/SDHC/SDHD (n=673/43/160). Tumour risks were correlated with in silico structural prediction analyses.ResultsTumour risks analysis provided novel penetrance estimates and genotype–phenotype correlations. In addition to tumour type susceptibility differences for individual genes, we confirmed that the SDHD:p.Pro81Leu mutation has a distinct phenotype and identified increased age-related tumour risks with highly destabilising SDHB missense mutations. By Kaplan-Meier analysis, the penetrance (cumulative risk of clinically apparent tumours) in SDHB and (paternally inherited) SDHD mutation-positive non-probands (n=371/67 with detailed clinical information) by age 60 years was 21.8% (95% CI 15.2% to 27.9%) and 43.2% (95% CI 25.4% to 56.7%), respectively. Risk of malignant disease at age 60 years in non-proband SDHB mutation carriers was 4.2%(95% CI 1.1% to 7.2%). With retrospective cohort analysis to adjust for ascertainment, cumulative tumour risks for SDHB mutation carriers at ages 60 years and 80 years were 23.9% (95% CI 20.9% to 27.4%) and 30.6% (95% CI 26.8% to 34.7%).ConclusionsOverall risks of clinically apparent tumours for SDHB mutation carriers are substantially lower than initially estimated and will improve counselling of affected families. Specific genotype–tumour risk associations provides a basis for novel investigative strategies into succinate dehydrogenase-related mechanisms of tumourigenesis and the development of personalised management for SDHB/SDHC/SDHD mutation carriers.

An unusual succinate dehydrogenase gene mutation C in a case of laryngeal paraganglioma

2008 ◽  
Vol 123 (1) ◽  
pp. 141-144 ◽  
Author(s):  
R Garrel ◽  
P Raynaud ◽  
I Raingeard ◽  
C Muyshondt ◽  
Q Gardiner ◽  
...  
Keyword(s):  
Succinate Dehydrogenase ◽  
Gene Mutation ◽  
World Literature ◽  
Neuroendocrine Tumour ◽  
Genetic Mutations ◽  
Dehydrogenase Gene ◽  
The World ◽  
Thyroid Papillary ◽  
History Of ◽  
Succinate Dehydrogenase Mutation

AbstractObjective:To report a rare case of a laryngeal paraganglioma related to succinate dehydrogenase gene mutation C.Method:A case report and a review of the world literature concerning succinate dehydrogenase mutations and laryngeal paraganglioma are presented.Results:We identified a laryngeal paraganglioma in a 38-year-old woman, related to a very rare, deleterious in exon 4 of the succinate dehydrogenase mutation C. This mutation was a non-sense mutation: c.183G >A leading to p.Trp61X. No other neuroendocrine tumour was identified in this case, but a thyroid papillary carcinoma was concomitantly discovered and cured.Conclusion:To our knowledge, this is the first report in the world literature of laryngeal paraganglioma related to a succinate dehydrogenase mutation C. The case presented underlines the fact that every patient with paraganglioma should be tested for succinate dehydrogenase genetic mutations, even if a family history of paraganglioma is absent, in order to enable appropriate clinical management and to improve our knowledge of familial paraganglioma.

Succinate dehydrogenase mutation-related paragangliomas

2015 ◽  
Vol 36 (7) ◽  
pp. 657-665
Author(s):  
Maria Christina Marzola ◽  
Sotirios Chondrogiannis ◽  
Patrick M. Colletti ◽  
Domenico Rubello
Keyword(s):  
Succinate Dehydrogenase ◽  
Succinate Dehydrogenase Mutation

Outcomes of annual surveillance imaging in an adult and paediatric cohort of succinate dehydrogenase B mutation carriers

2016 ◽  
Author(s):  
Nicola Tufton ◽  
Lucy Shapiro ◽  
Umasuthan Srirangalingam ◽  
Polly Richards ◽  
Anju Sahdev ◽  
...  
Keyword(s):  
Succinate Dehydrogenase ◽  
Mutation Carriers ◽  
Surveillance Imaging ◽  
Paediatric Cohort

scholarly journals Identification of SDHA (Subunit A of the Succinate Dehydrogenase) Mutation in Patient With Carney-Stratakis Syndrome

2013 ◽  
Vol 140 (suppl 1) ◽  
pp. A185-A185
Author(s):  
Sharon S. Zhang ◽  
John A. Hart ◽  
Aliya N. Husain ◽  
Andrew J. Wagner ◽  
Jason L. Hornick
Keyword(s):  
Succinate Dehydrogenase ◽  
Subunit A ◽  
Succinate Dehydrogenase Mutation

scholarly journals Clinical Practice Guidance: Surveillance for phaeochromocytoma and paraganglioma in paediatric succinate dehydrogenase gene mutation carriers

2019 ◽  
Vol 90 (4) ◽  
pp. 499-505 ◽  
Author(s):  
Mei Yin Wong ◽  
Katrina A. Andrews ◽  
Benjamin G. Challis ◽  
Soo-Mi Park ◽  
Carlo L. Acerini ◽  
...  
Keyword(s):  
Clinical Practice ◽  
Succinate Dehydrogenase ◽  
Gene Mutation ◽  
Mutation Carriers ◽  
Dehydrogenase Gene

Outcomes of annual surveillance imaging in an adult and paediatric cohort of succinate dehydrogenase B mutation carriers

2016 ◽  
Vol 86 (2) ◽  
pp. 286-296 ◽  
Author(s):  
Nicola Tufton ◽  
Lucy Shapiro ◽  
Umasuthan Srirangalingam ◽  
Polly Richards ◽  
Anju Sahdev ◽  
...  
Keyword(s):  
Succinate Dehydrogenase ◽  
Mutation Carriers ◽  
Surveillance Imaging ◽  
Paediatric Cohort
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