Paraganglioma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Although the tumour appeared to be sporadic in a patient with no personal or familial history of paraganglioma and/or pheochromocytoma, we have identified a new mutation (392delC) of the succinate dehydrogenase-B (SDHB) gene in the genomic DNA extracted from the leukocytes of the patient.
|
15476441 |
2004 |
Paraganglioma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Among 18 patients, we identified a novel heterozygous nonsense mutation at codon 168 resulting in a CAG (glutamine) to TAG (stop) substitution (Q168X) in the SDHB gene in a patient diagnosed with solitary sporadic PGL.
|
20505258 |
2010 |
Paraganglioma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We performed a retrospective analysis of 71 subjects with metastatic pheochromocytoma and paraganglioma (30 subjects with mutation of succinate dehydrogenase enzyme subunit B (SDHB) gene and 41 subjects without SDHB mutation).
|
18310297 |
2008 |
Paraganglioma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Germline mutations in FH predispose individuals to leiomyomas and renal cell cancer (HLRCC), whereas mutations in SDH cause paragangliomas and phaeochromocytomas (HPGL).
|
15987702 |
2005 |
Paraganglioma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We report a family with malignant sympathetic paragangliomas (PGL) exhibiting a new type of germline mutation in the succinate dehydrogenase subunit B (SDHB) gene.
|
14715873 |
2004 |
Paraganglioma
|
0.700 |
Biomarker
|
disease |
BEFREE |
We studied 14 cases of this entity and investigated the usefulness of SDHB protein staining by immunohistochemistry (IHC) as a diagnostic tool to identify patients with bladder paragangliomas that could be associated with SDHB gene mutations, as these patients have a more aggressive disease.
|
26457353 |
2015 |
Paraganglioma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
As recently described, SDHB mutations may cause extra-adrenal and malignant paragangliomas, such as in the present case.
|
19415531 |
2009 |
Paraganglioma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In addition, germline SDHD and SDHB mutations may cause phaeochromocytoma susceptibility with or without associated head and neck paragangliomas.
|
12351569 |
2002 |
Paraganglioma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Histopathology and genetic analysis ultimately revealed the patient to have suffered from a paraganglioma type 4 syndrome with a missense mutation of the SDHB gene.
|
24429046 |
2014 |
Paraganglioma
|
0.700 |
Biomarker
|
disease |
CTD_human |
We report a 13-year-old African American boy with diffusely metastatic PGL and compound heterozygous mutation leading to a novel splice donor region DNA sequence variant in the SDHB gene.
|
19927285 |
2010 |
Paraganglioma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in genes encoding succinate dehydrogenase and its anchoring subunits (SDH genes) are at the origin of hereditary head and neck paraganglioma (PGL) and a subset of apparently sporadic pheochromocytoma.
|
19145771 |
2009 |
Paraganglioma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
SDHB mutation carriers are predisposed to developing paragangliomas (PGLs).
|
25047027 |
2014 |
Paraganglioma
|
0.700 |
Biomarker
|
disease |
BEFREE |
Since human PGL cell lines are not available, we used the neuroblastoma cell line (SK-N-AS) stably transfected with the wild-type human SDHB or different SDHB-mutated constructs carrying some significant mutations found in our patients affected by PGLs.
|
24595825 |
2014 |
Paraganglioma
|
0.700 |
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 |
Paraganglioma
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
SDHB protein expression was absent in all 102 phaeochromocytomas and paragangliomas with an SDHB, SDHC, or SDHD mutation, but was present in all 65 paraganglionic tumours related to multiple endocrine neoplasia type 2, von Hippel-Lindau disease, and neurofibromatosis type 1.
|
19576851 |
2009 |
Paraganglioma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The paraganglioma-pheochromocytoma syndromes (SDHx) comprise familial gene mutations, of which the SDHB gene mutation carries a high rate of malignancy.
|
28752085 |
2017 |
Paraganglioma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Paragangliomas of the organ of Zuckerkandl (OZ-PGL) are rare tumors that, in >70% of cases, occur in association with succinate dehydrogenase complex iron sulfur subunit B (<i>SDHB</i>) or <i>SDHD</i> gene mutations.
|
28454217 |
2017 |
Paraganglioma
|
0.700 |
GeneticVariation
|
disease |
LHGDN |
We assessed the frequency of SDHB, SDHC, and SDHD gene mutations by PCR amplification and sequencing in a set of head and neck paraganglioma patients who were previously managed in two otolaryngology clinics in the USA.
|
11897817 |
2002 |
Paraganglioma
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
Forty percent of paragangliomas are linked to genetic syndromes, most commonly due to mutations of the succinate dehydrogenase (SDH) enzyme complex and are collectively known as paraganglioma syndromes, of which five are described.
|
30551795 |
2019 |
Paraganglioma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Array-based comparative genomic hybridisation (aCGH) analysis and multiplex ligation-dependent probe amplification (MLPA) revealed a novel deletion of exon 1-3 in the SDHB gene, suspected to predispose to paraganglioma (PGL)/pheochromocytoma (PHEO) syndrome type 4.
|
29292578 |
2018 |
Paraganglioma
|
0.700 |
Biomarker
|
disease |
BEFREE |
Although 14 different genes have been linked to paraganglioma/pheochromocytoma, a subgroup of these genes is associated with hereditary paraganglioma-pheochromocytoma, the genes related to mitochondrial succinate dehydrogenase (SDH) including SDHA, SDHB, SDHC, SDHD and the assembly factor SDHAF2.
|
26067997 |
2015 |
Paraganglioma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Recent advances in genetics revealed that 25% to 30% of head and neck paragangliomas (PGLs) are inherited tumors associated with germline mutation, mainly in the succinate dehydrogenase (SDH) gene.
|
24599702 |
2014 |
Paraganglioma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Genetic screening confirmed the diagnosis of Carney-Stratakis syndrome, an SDH-D germline mutation leading to GIST and multifocal paragangliomas.
|
25883251 |
2015 |
Paraganglioma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Our results do not confirm SDHB mutations as a major prognostic parameter in MPP and suggest additional key molecular events involved in MPP tumor progression.
|
30715419 |
2019 |
Paraganglioma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The presence of mutations within SDHB and SDHD in two of the three samples of familial PGLs and absence of mutations in sporadic cases is consistent with the significant contribution of these genes to familial but not sporadic PGL.
|
15479192 |
2004 |