|
Neoplasms
|
0.100 |
AlteredExpression
|
group |
BEFREE |
Beside the well-known syndromes associated with an increased risk of adrenal phaeochromocytoma, Von Hippel Lindau disease, multiple endocrine neoplasia type 2 and neurofibromatosis type 1, the study of inherited predisposition to head and neck paragangliomas led to the discovery of the novel 'paraganglioma-phaeochromocytoma syndrome' caused by germline mutations in three genes encoding subunits of the succinate dehydrogenase (SDH) enzyme (SDHB, SDHC and SDHD) thus opening an unexpected connection between mitochondrial tumour suppressor genes and neural crest-derived cancers.
|
19522823 |
2009 |
|
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Tumors with mutations in SDH genes can be identified using immunohistochemistry.
|
23797725 |
2013 |
|
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
Moreover, the demonstration that the SDH genes, are tumor suppressor genes and that their inactivation is involved in the hypoxia-angiogenic pathway activating the transcription factor hypoxia-inducible factor (HIF) by inhibiting prolyl hydroxylases (PHDs) may lead to the identification of new therapeutic targets for these rare diseases.
|
17102078 |
2006 |
|
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
All 12 SDH mutated tumors (6 SDHB, 5 SDHD, and 1 SDHC) showed weak diffuse or negative staining.
|
20236688 |
2010 |
|
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Surveillance programs for patients with SDH mutation may be tailored to include the possibility of pituitary neoplasia; however, this is likely to be a low-yield strategy.
|
24625421 |
2014 |
|
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
In 2 tumors, 3 novel mutations were identified (p.Gln54X, p.Thr267Met, and c.1663+3G>C), none of which have previously been reported in GISTs or other SDH-associated tumors.
|
23060355 |
2013 |
|
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
All 14 patients with SDH mutations (9 with SDHB and 5 with SDHD mutations) exhibited negative or weak-diffuse SDHB staining pattern in tumour tissue, whereas cells of the 23 RET mutated and 8 VHL mutated tumours showed a positive SDHB immunostaining.
|
24096807 |
2013 |
|
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Approximately half of the patients have SDH subunit gene mutations, often germline and most commonly A (30%), and B, C or D (together 20%), with both alleles inactivated in the tumor cells according to the classic tumor suppressor gene model.
|
24886695 |
2014 |
|
Neoplasms
|
0.100 |
AlteredExpression
|
group |
BEFREE |
This study aimed to investigate the association of SDH gene mutations and promoter methylation with succinate dehydrogenase-deficient gastrointestinal stromal tumors (SDH-deficient GISTs) and to further discuss the potential molecular mechanisms underlying SDHB expression loss in these tumors.
|
31273876 |
2019 |
|
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
In this study we collected all previously reported SDH mutations with the aim of defining their nature and tumor spectrum.
|
25394176 |
2015 |
|
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
SDH mutations result in the accumulation of succinate associated with various metabolic disturbances and the shift to aerobic glycolysis in tumor tissue.
|
24189137 |
2014 |
|
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
Increased HIF1 alpha in SDH and FH deficient tumors does not cause microsatellite instability.
|
17520677 |
2007 |
|
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
Patients whose tumors harbored a KIT exon 11 mutation demonstrated the longest median PFS (13.4 months), whereas patients with KIT/PDGFRA wild-type, non-SDH-deficient tumors experienced a median 1.6 months PFS (P < 0.0001).
|
27371698 |
2016 |
|
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
We postulated that SDH mutations might play a role in these tumors.
|
20592014 |
2010 |
|
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
We performed in silico analysis, tissue loss of heterozygosity analysis, immunohistochemistry, Western blot analysis, SDH enzymatic assay, and measurement of the succinate/fumarate concentration ratio in the tumor tissue by tandem mass spectrometry.
|
24758185 |
2014 |
|
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
If SDH molecular genetic analysis fails to detect a mutation in SDHB-immunonegative tumor, SDHC promoter methylation and/or VHL/NF1 testing with the use of targeted next-generation sequencing is advisable.
|
25720320 |
2015 |
|
Neoplasms
|
0.100 |
GeneticVariation
|
group |
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 |
|
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
Mutations in mitochondrial complex II (MCII; succinate dehydrogenase, Sdh) genes cause familiar pheochromocytoma/paraganglioma tumors.
|
24465590 |
2014 |
|
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Transcriptional profiling analysis classified the tumor within cluster 2 of PCCs/PGLs (without SDH gene mutations) and identified downregulation of genes involved in neuronal development and homeostasis (NLGN4, CD99 and CSF2RA) as well as upregulation of Drosha, an important gene involved in miRNA and rRNA processing.
|
27209355 |
2016 |
|
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
SDH-deficient tumours principally accumulate succinate.
|
15987702 |
2005 |
|
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
In addition, preliminary evidence indicates a potential association with the acquisition of TERT promoter mutations in SDH-deficient tumors.
|
24951106 |
2014 |
|
Neoplasms
|
0.100 |
AlteredExpression
|
group |
BEFREE |
In this review, we highlight the current knowledge of the physiologic and pathologic role of the SDH enzyme complex and its involvement in endocrine and non-endocrine tumors, with an emphasis on the applicability of immunohistochemistry.
|
30421319 |
2019 |
|
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
Succinate dehydrogenase subunit B (SDHB) gene, which encodes one of the four subunits of SDH, has been recognized as a tumor suppressor.
|
25491408 |
2014 |
|
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Patients with SDH enzyme mutations have increased lifetime risk of developing multifocal tumors and malignancy.
|
31498738 |
2020 |
|
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
Here we describe etiology, genetics, as well as clinical aspects of SDH-related tumors.
|
20833333 |
2010 |