Adrenal Gland 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 |
Adrenal Gland 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 |
Adrenal Gland 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 |
Adrenal Gland 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 |
Adrenal Gland 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 |
Adrenal Gland Pheochromocytoma
|
0.100 |
GeneticVariation
|
disease |
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 |
Adrenal Gland Pheochromocytoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
Clinical, biochemical, pathological attributes, and outcomes in the MEN-PCC group were correlated with the genotype, and further compared with non-MEN, apparently sporadic adrenal-PCCs (n = 132, excluding 37 extra-adrenal and 15 VHL/NF1/SDH-associated PCC).
|
26438242 |
2016 |
Adrenal Gland 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 |
Adrenal Gland 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 |
Adrenal Gland 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 |
Adrenal Gland 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 |
Adrenal Gland Pheochromocytoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in mitochondrial complex II (MCII; succinate dehydrogenase, Sdh) genes cause familiar pheochromocytoma/paraganglioma tumors.
|
24465590 |
2014 |
Adrenal Gland 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 |
Adrenal Gland 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 |
Adrenal Gland Pheochromocytoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
The dysfunction of genes involved in the cellular response to hypoxia, such as VHL, EGL nine homolog 1, and the succinate dehydrogenase (SDH) genes, leads to a direct abrogation of hypoxia inducible factor (HIF) degradation, resulting in a pseudo-hypoxic state implicated in PCC/PGL development.
|
23418310 |
2013 |
Adrenal Gland 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 |
Adrenal Gland 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 |
Adrenal Gland 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 |
Adrenal Gland Pheochromocytoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
SDH-related pheochromocytoma and paraganglioma.
|
20833333 |
2010 |
Adrenal Gland 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 |
Adrenal Gland 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 |
Adrenal Gland 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 |
Adrenal Gland 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 |
Adrenal Gland 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 |
Adrenal Gland 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 |