Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Mutations in mitochondrial complex II (succinate dehydrogenase; SDH) genes predispose to paraganglioma tumors that show constitutive activation of hypoxia responses.
|
28204537 |
2017 |
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 |
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 |
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 |
GISTs with SDH mutations are multinodular/bilobed/dumb-bell shape tumour masses with mucosal ulceration and histologically characterised by fibrous bands around and within nodules of epithelioid or mixed epithelioid/spindle cells.
|
27317811 |
2016 |
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
Here we describe etiology, genetics, as well as clinical aspects of SDH-related tumors.
|
20833333 |
2010 |
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
Whole-body MRI missed one tumor, while biochemical testing was normal in five patients with SDH-related tumors.
|
23934599 |
2014 |
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
Defective cellular respiration appears to underpin tumor development in these wild-type cases, which as a group lack expression of succinate dehydrogenase [SDH] B, a surrogate marker for respiratory chain metabolism.
|
23717541 |
2013 |
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
Global transcription analysis of KIF1B beta mutant pheochromocytomas revealed that these tumors are transcriptionally related to pheochromocytomas with RET and NF1 mutations but independent from SDH- and VHL-associated tumors.
|
18726616 |
2008 |
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
Utility of immunohistochemical investigation of SDHB and molecular genetic analysis of SDH genes in the differential diagnosis of mesenchymal tumors of GIT.
|
25205505 |
2015 |
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 |
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 |
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 |
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 |
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 |
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 |
Biomarker
|
group |
BEFREE |
This model is potentially important for what it might reveal specifically pertinent to this rare tumor type and, more broadly, to other types of SDH-deficient tumors.
|
29967109 |
2018 |
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
SDH-deficient tumours principally accumulate succinate.
|
15987702 |
2005 |
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 |
Patients with SDH enzyme mutations have increased lifetime risk of developing multifocal tumors and malignancy.
|
31498738 |
2020 |
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 |
This report further strengthens the link between pituitary neoplasia and germline SDH mutation.
|
23633203 |
2013 |
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 |
Biomarker
|
group |
BEFREE |
We further suggest that study of the SDH genes in NBL survivors who develop secondary solid tumors, particularly RCC, may correct this bias, and provide for more effective and comprehensive tumor screening in this patient population.
|
20503330 |
2010 |
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Tumors with mutations in SDH genes can be identified using immunohistochemistry.
|
23797725 |
2013 |