Pheochromocytoma
|
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 |
Pheochromocytoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
The Role of 68Ga-DOTA-Octreotate PET/CT in Follow-Up of SDH-Associated Pheochromocytoma and Paraganglioma.
|
30977831 |
2019 |
Pheochromocytoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In this study, we investigated mutations of SDH genes in six HPPS patients from four Japanese pedigrees using peripheral blood lymphocytes (from one patient with pheochromocytoma and five patients with neck paraganglioma) and tumor tissues (from two patients with paraganglioma).
|
29925701 |
2018 |
Pheochromocytoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
The succinate dehydrogenase (SDH) enzyme was proven to be the most important molecular pathway involved in pheochromocytomas, along with several other genes.
|
30456751 |
2018 |
Pheochromocytoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
CT = computed tomography HNP = head and neck paraganglioma IQR = interquartile range PGL = paraganglioma PPGL = pheochromocytoma and paraganglioma SDH = succinate dehydrogenase.
|
27967220 |
2017 |
Pheochromocytoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
The aim of this study was to investigate interobserver variability among seven expert endocrine pathologists using a web-based virtual microscopy approach in a large multicenter pheochromocytoma/paraganglioma cohort (n=351): (1) 73 SDH mutated, (2) 105 non-SDH mutated, (3) 128 samples without identified SDH-x mutations, and (4) 45 with incomplete SDH molecular genetic analysis.
|
25720320 |
2015 |
Pheochromocytoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
Metabolome profiling by HRMAS NMR spectroscopy of pheochromocytomas and paragangliomas detects SDH deficiency: clinical and pathophysiological implications.
|
25622899 |
2015 |
Pheochromocytoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations of the SDH gene are associated with many tumors, such as renal cell carcinoma, wild type gastrointestinal stromal tumors (WT GISTs) and hereditary paragangliomas/pheochromocytomas.
|
26722403 |
2015 |
Pheochromocytoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
IDH1 and IDH2 mutations are found in many neoplasms, and germline alterations in SDH genes and FH predispose to pheochromocytoma/paraganglioma and other cancers.
|
25766404 |
2015 |
Pheochromocytoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in mitochondrial complex II (MCII; succinate dehydrogenase, Sdh) genes cause familiar pheochromocytoma/paraganglioma tumors.
|
24465590 |
2014 |
Pheochromocytoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
Patients with germline mutations in one of the SDH genes are at substantially increased risk of developing paragangliomas, pheochromocytomas (pheos), and other tumors (all combined referred to as SDH-related tumors).
|
23934599 |
2014 |
Pheochromocytoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Using the yeast model, here, we report functional investigations on several missense SDH mutations found in patients affected by pheochromocytomas or paragangliomas.
|
23175444 |
2013 |
Pheochromocytoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Usefulness of negative and weak-diffuse pattern of SDHB immunostaining in assessment of SDH mutations in paragangliomas and pheochromocytomas.
|
24096807 |
2013 |
Pheochromocytoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Genetic analysis for PHEO/paraganglioma genes (SDH A-D, SDHAF2, RET, VHL, TMEM127, and MAX), and pituitary-related genes (AIP, MEN1, and p27) were negative.
|
23295290 |
2012 |
Pheochromocytoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
It is now recognized that all of the SDH genes are involved in the tumorigenesis of not only paragangliomas/pheochromocytomas, but also other tumor types, most notably gastrointestinal stromal tumors.
|
22692282 |
2012 |
Pheochromocytoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The paraganglioma-pheochromocytoma syndrome is caused by germline-inactivating mutations in the mitochondrial succinate dehydrogenase (SDH) genes SDHB, SDHC, SDHD, or SDHAF2, and VHL is the result of inactivating VHL gene mutations.
|
19915015 |
2010 |
Pheochromocytoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The differing effect of the SDHD p.Pro81Leu on HNPGL and pheochromocytoma risks suggests differing mechanisms of tumorigenesis in SDH-associated HNPGL and pheochromocytoma.
|
19802898 |
2010 |
Pheochromocytoma
|
0.100 |
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 |
Pheochromocytoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
SDH-related pheochromocytoma and paraganglioma.
|
20833333 |
2010 |
Pheochromocytoma
|
0.100 |
Biomarker
|
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 |
Pheochromocytoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Despite these figures, the screening of phaeochromocytomas and paragangliomas for mutations in the SDH genes to detect phaeochromocytoma-paraganglioma syndrome is rarely done because of time and financial constraints.
|
19576851 |
2009 |
Pheochromocytoma
|
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 |
Pheochromocytoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
Recent studies indicate that succinate dehydrogenase (SDH) genes B, C, or D are, at least partly, involved in the pathogenesis of pheochromocytoma or paraganglioma.
|
19550080 |
2009 |
Pheochromocytoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Recent studies have demonstrated that SDH gene mutations in germ line occur in at least 11% of non-familial head and neck paragangliomas, 8% of non-familial pheochromocytomas, 28% of malignant pheochromocytomas and 33% of extra-adrenal pheochromocytomas.
|
18978332 |
2008 |
Pheochromocytoma
|
0.100 |
GeneticVariation
|
disease |
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 |