|
Pheochromocytoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Higher risk of phaeochromocytoma/paraganglioma (Phaeo-Pgl) in SDHD than SDHB carriers: an Australian cohort study.
|
30957378 |
2019 |
|
Pheochromocytoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Conventional imaging is used for tumour localization, whereas (18)F-FDG-PET for staging of metastatic PCs/PGLs especially those related to SDHB gene mutations.
|
26183460 |
2015 |
|
Pheochromocytoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Most commonly, up to 25% of all PC-PGLs are associated with mutations in one of the succinate dehydrogenase (SDH) enzyme subunit genes.
|
31498738 |
2020 |
|
Pheochromocytoma
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Novel succinate dehydrogenase subunit B (SDHB) mutations in familial phaeochromocytomas and paragangliomas, but an absence of somatic SDHB mutations in sporadic phaeochromocytomas.
|
12618761 |
2003 |
|
Pheochromocytoma
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Genetic testing in head and neck paraganglioma: who, what, and why?
|
24436918 |
2013 |
|
Pheochromocytoma
|
0.800 |
GeneticVariation
|
disease |
LHGDN |
Relapsing pheochromocytoma in a Chinese women caused by a novel mutation in exon 6 of the SDHB gene: a case report.
|
17943698 |
2007 |
|
Pheochromocytoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
So far, germline mutations in five genes have been identified to be responsible for familial PHEOs: the von Hippel-Lindau gene, which causes von Hippel-Lindau syndrome, the RET gene leading to multiple endocrine neoplasia type 2, the neurofibromatosis type 1 gene, which is associated with von Recklinghausen's disease and the genes encoding the B and D subunits of mitochondrial succinate dehydrogenase (SDHB, SDHD), which are associated with familial paragangliomas and PHEOs.
|
17119341 |
2006 |
|
Pheochromocytoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
These studies indicate that the frequency of germline mutations associated with isolated pheochromocytoma is higher than previously estimated, with both hospital-based series and a large population-based series indicating that the frequency of germline mutations in RET, VHL, SDHB, and SDHD taken together approximates 20%.
|
12928344 |
2003 |
|
Pheochromocytoma
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Screening of mutations in genes that predispose to hereditary paragangliomas and pheochromocytomas.
|
22517554 |
2012 |
|
Pheochromocytoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
This is the first report of pheochromocytoma with a confirmed SDHB germline mutation in Korea.
|
20563860 |
2010 |
|
Pheochromocytoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We describe a pediatric patient initially considered to have localized neuroblastoma based on anatomical imaging and <sup>123</sup> I-MIBG scan, but subsequent investigations revealed germline succinate dehydrogenase complex iron sulfur subunit B (SDHB) mutation-associated pheochromocytoma with multiple FDG-avid skeletal metastases.
|
28409892 |
2017 |
|
Pheochromocytoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
As SDH mutations are virtually always germline, we conclude that approximately 15% of all pheochromocytomas or paragangliomas are associated with germline SDH mutation and that immunohistochemistry can be used to triage genetic testing.
|
20236688 |
2010 |
|
Pheochromocytoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Finally, discovery of a shared activation of the hypoxic response in pheochromocytomas with mutations in VHL and SDH genes and uncovering of a common JunB-mediated apoptosis defect in the major hereditary groups of pheochromocytoma have provided a mechanistic basis for the clinical similarities between these distinct syndromes.
|
16357557 |
2006 |
|
Pheochromocytoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Combining our results with those from two other large studies in which both SDHB and SDHD have been analysed, SDHB mutations were most commonly associated with phaeochromocytoma susceptibility and SDHD with the development of HNPGL (P = 0.025).
|
14974914 |
2003 |
|
Pheochromocytoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in mitochondrial complex II (MCII; succinate dehydrogenase, Sdh) genes cause familiar pheochromocytoma/paraganglioma tumors.
|
24465590 |
2014 |
|
Pheochromocytoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
SDHB mutation status and tumor size but not tumor grade are important predictors of clinical outcome in pheochromocytoma and abdominal paraganglioma.
|
27839933 |
2017 |
|
Pheochromocytoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Research resource: Transcriptional profiling reveals different pseudohypoxic signatures in SDHB and VHL-related pheochromocytomas.
|
20980436 |
2010 |
|
Pheochromocytoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Succinate dehydrogenase subunit B (SDHB) gene mutations are associated with an aggressive clinical disease course of pheochromocytoma/paraganglioma (PHEO/PGL).
|
28374168 |
2017 |
|
Pheochromocytoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Earlier development of Pheo/PGL, more malignant phenotype and multiple tumors were observed in genetically positive cases especially in those with SDHB mutations.
|
26960314 |
2016 |
|
Pheochromocytoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Patients harboring germline mutations in the succinate dehydrogenase complex subunit B (SDHB) gene present with pheochromocytomas and paragangliomas (PPGL) that are more likely malignant and clinically aggressive.
|
29623478 |
2018 |
|
Pheochromocytoma
|
0.800 |
GeneticVariation
|
disease |
LHGDN |
SDHB mutations, frequent in patients with malignant pheochromocytomas or paragangliomas, are associated with shorter survival.
|
17652212 |
2007 |
|
Pheochromocytoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Germline mutations of SDHD and SDHB are a major cause of the hereditary forms of the tumors paraganglioma and pheochromocytoma.
|
16288654 |
2005 |
|
Pheochromocytoma
|
0.800 |
GeneticVariation
|
disease |
LHGDN |
Recent reports have found frequent germline mutations of VHL, RET, SDHB or SDHD not only in familial cases but also in apparently sporadic cases of phaeochromocytoma.
|
16472267 |
2006 |
|
Pheochromocytoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Despite these figures, the screening of phaeochromocytomas and paragangliomas for mutations in the SDH genes to detect phaeochromocytoma-paraganglioma syndrome is rarely done because of time and financial constraints.
|
19576851 |
2009 |
|
Pheochromocytoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
(18)F-DOPA PET is a sensitive and specific imaging modality for the detection and staging of pheochromocytomas and paragangliomas in different genotypes, including VHL-, SDHB-, and SDHD-mutation carriers, and in patients with no germline mutation.
|
22836345 |
2012 |