Clinical consensus guideline on the management of phaeochromocytoma and paraganglioma in patients harbouring germline SDHD pathogenic variants

D Taïeb, GB Wanna, M Ahmad… - The Lancet Diabetes & …, 2023 - thelancet.com
Patients with germline SDHD pathogenic variants (encoding succinate dehydrogenase
subunit D; ie, paraganglioma 1 syndrome) are predominantly affected by head and neck …

[HTML][HTML] Management of phaeochromocytoma and paraganglioma in patients with germline SDHB pathogenic variants: an international expert Consensus statement

D Taïeb, S Nölting, ND Perrier, M Fassnacht… - Nature Reviews …, 2024 - nature.com
Adult and paediatric patients with pathogenic variants in the gene encoding succinate
dehydrogenase (SDH) subunit B (SDHB) often have locally aggressive, recurrent or …

Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations

HPH Neumann, C Pawlu, M Pęczkowska, B Bausch… - Jama, 2004 - jamanetwork.com
ContextGermline mutations of the genes encoding succinate dehydrogenase subunits B
(SDHB) and D (SDHD) predispose to paraganglioma syndromes type 4 (PGL-4) and type 1 …

An immunohistochemical procedure to detect patients with paraganglioma and phaeochromocytoma with germline SDHB, SDHC, or SDHD gene mutations: a …

FH van Nederveen, J Gaal, J Favier… - The lancet …, 2009 - thelancet.com
Background Phaeochromocytomas and paragangliomas are neuro-endocrine tumours that
occur sporadically and in several hereditary tumour syndromes, including the …

Clinical Aspects of SDHA-Related Pheochromocytoma and Paraganglioma: A Nationwide Study

K Van Der Tuin, AR Mensenkamp… - The Journal of …, 2018 - academic.oup.com
Context Paraganglioma (PGL) has the highest degree of heritability among human
neoplasms. Current clinical understanding of germline SDHA mutation carriers is limited …

The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas

N Burnichon, V Rohmer, L Amar… - The Journal of …, 2009 - academic.oup.com
Context: Germline mutations in SDHx genes cause hereditary paraganglioma. Objective:
The aim of the study was to assess the indications for succinate dehydrogenase (SDH) …

Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes

DE Benn, AP Gimenez-Roqueplo… - The Journal of …, 2006 - academic.oup.com
Context: The identification of mutations in genes encoding peptides of succinate
dehydrogenase (SDH) in pheochromocytoma/paraganglioma syndromes has necessitated …

Mutations in SDHD are the major determinants of the clinical characteristics of Dutch head and neck paraganglioma patients

EF Hensen, MD Siemers, JC Jansen… - Clinical …, 2011 - Wiley Online Library
Objective Head and neck paragangliomas (HNPGL) are associated with mutations in genes
encoding subunits of succinate dehydrogenase (SDH). The aim of this study was to evaluate …

[引用][C] Are we overestimating the penetrance of mutations in SDHB?

F Schiavi, RL Milne, E Anda, P Blay… - Human …, 2010 - Wiley Online Library
We recently read with interest the article by Ricketts and colleagues [2010] based on a
genotype–phenotype association study performed in a very large number of germline SDHB …

Mutations associated with succinate dehydrogenase d‐related malignant paragangliomas

HJLM Timmers, K Pacak, J Bertherat… - Clinical …, 2008 - Wiley Online Library
Objective Hereditary paraganglioma (PGL) syndromes result from germline mutations in
genes encoding subunits B, C and D of the mitochondrial enzyme succinate dehydrogenase …