|
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Germ line heterozygous mutations in the structural subunit genes of mitochondrial complex II (succinate dehydrogenase; SDH) and the regulatory gene SDHAF2 predispose to paraganglioma tumors which show constitutive activation of hypoxia inducible pathways.
|
23291190 |
2013 |
|
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
This report further strengthens the link between pituitary neoplasia and germline SDH mutation.
|
23633203 |
2013 |
|
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 |
Biomarker
|
group |
BEFREE |
Tissue microarrays were constructed from 1009 renal cell neoplasms (papillary: 400, clear cell: 203, chromophobe: 87, oncocytomas [original diagnosis]: 273, unclassified: 46) and these cases were immunostained for SDHA/SDHB to screen for SDH loss.
|
31299266 |
2019 |
|
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
SDH, which is also the complex II of the oxidative respiratory chain, was the first mitochondrial enzyme to be identified having tumour suppressor functions, demonstrating that 80 years after his initial proposal, Otto Warburg may have actually been right when he hypothesized that low mitochondrial respiration was the origin of cancer.
|
28471419 |
2017 |
|
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 |
Fundamental research studies have shown that SDH genes are tumour suppressor genes and that succinate dehydrogenase inactivation induces abnormal stimulation of the hypoxia-angiogenesis pathway.4.
|
18307724 |
2008 |
|
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 |
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 |
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 |
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 |
AlteredExpression
|
group |
BEFREE |
Targeted purine analysis in PGLs showed low adenine in cluster 1 compared with cluster 2 tumors (SDH P < .0001; VHL P < .05) whereas lower levels (P < .05) of guanosine and hypoxanthine were observed in RET tumors compared with SDH tumors.
|
25459911 |
2015 |
|
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 |
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 |
|
Paraganglioma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Germline mutations in SDH genes are responsible for 6% and 9% of sporadic paragangliomas and phaeochromocytomas, respectively, 29% of paediatric cases, 38% of malignant tumours and more than 80% of familial aggregations of paraganglioma and phaeochromocytoma.
|
19522823 |
2009 |
|
Paraganglioma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A significant number of patients with paragangliomas harbor germline mutations in one of the succinate dehydrogenase (SDH) genes (SDHA, B, C, or D).
|
23797725 |
2013 |
|
Paraganglioma
|
0.100 |
Biomarker
|
disease |
BEFREE |
Targeted purine analysis in PGLs showed low adenine in cluster 1 compared with cluster 2 tumors (SDH P < .0001; VHL P < .05) whereas lower levels (P < .05) of guanosine and hypoxanthine were observed in RET tumors compared with SDH tumors.
|
25459911 |
2015 |
|
Paraganglioma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutation screening of genes associated to VHL (VHL), MEN (RET), and familial PGL (SDH-B, -C, and -D) showed that all cases had germline deletions in the SDHB gene.
|
16304664 |
2006 |
|
Paraganglioma
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
3-MT = 3-methoxytyramine; EPAS1 = endothelial pas domain protein 1; FH = fumarate hydratase; HIF2A = hypoxia inducible factor type 2A; MEN2 = multiple endocrine neoplasia type 2; NF1 = neurofibromatosis type 1; PNMT = phenylethanolamine N-methyltransferase; PPGL = pheochromocytoma and paraganglioma; RET = rearranged during transfection; SDH = succinate dehydrogenase; SDHAF2 = succinate dehydrogenase complex assembly factor 2; TCA = tricarboxylic acid; TH = tyrosine hydroxylase; TMEM127 = transmembrane protein 127; VHL = von Hippel-Lindau.
|
28332883 |
2017 |
|
Paraganglioma
|
0.100 |
Biomarker
|
disease |
BEFREE |
SDH-related pheochromocytoma and paraganglioma.
|
20833333 |
2010 |
|
Paraganglioma
|
0.100 |
Biomarker
|
disease |
BEFREE |
Mutations in mitochondrial complex II (MCII; succinate dehydrogenase, Sdh) genes cause familiar pheochromocytoma/paraganglioma tumors.
|
24465590 |
2014 |
|
Paraganglioma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Analysis of the SDH genes was performed in 29 patients and one kindred with familial PGL to identify germline mutations in the SDHB, SDHC, and SDHD genes by direct DNA sequencing.
|
22566157 |
2012 |
|
Paraganglioma
|
0.100 |
Biomarker
|
disease |
BEFREE |
The Role of 68Ga-DOTA-Octreotate PET/CT in Follow-Up of SDH-Associated Pheochromocytoma and Paraganglioma.
|
30977831 |
2019 |
|
Paraganglioma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In the human SDH, mutation of this tyrosine to cysteine results in paraganglioma, tumors of the parasympathetic ganglia in the head and neck.
|
17208193 |
2007 |
|
Paraganglioma
|
0.100 |
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 |