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 |
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 |
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 |
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 |
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 |
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 |
GeneticVariation
|
group |
BEFREE |
Tumors with mutations in SDH genes can be identified using immunohistochemistry.
|
23797725 |
2013 |
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 |
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 |
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 |
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 |
We postulated that SDH mutations might play a role in these tumors.
|
20592014 |
2010 |
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 |
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 |
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 |