Paraganglioma
|
0.700 |
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 |
Paraganglioma
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
Forty percent of paragangliomas are linked to genetic syndromes, most commonly due to mutations of the succinate dehydrogenase (SDH) enzyme complex and are collectively known as paraganglioma syndromes, of which five are described.
|
30551795 |
2019 |
Paraganglioma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Our results do not confirm SDHB mutations as a major prognostic parameter in MPP and suggest additional key molecular events involved in MPP tumor progression.
|
30715419 |
2019 |
Paraganglioma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Paraganglioma of the Vagina Associated With Germline SDHB Mutation: Report of a Case With Review of the Literature.
|
31851064 |
2019 |
Paraganglioma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
SDHB mutations are found in an increasing number of neoplasms, most notably in paragangliomas and pheochromocytomas (PPGLs).
|
31216007 |
2019 |
Paraganglioma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Hereditary paraganglioma-pheochromocytoma (PGL/PCC) syndromes are characterized by paragangliomas and pheochromocytomas and have been associated with germline heterozygous mutations in MAX, SDHA, SDHAF2, SDHB, SDHC, SDHD, or TMEM127.
|
31705439 |
2019 |
Paraganglioma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In multivariate models for association with survival, age (HR 1.04 [95% CI 1.02-1.06]) and metastases (HR 6.13 [95% CI 2.86-13.13]) but neither paraganglioma or SDHB mutation remained significant.
|
30893643 |
2019 |
Paraganglioma
|
0.700 |
Biomarker
|
disease |
BEFREE |
The Role of 68Ga-DOTA-Octreotate PET/CT in Follow-Up of SDH-Associated Pheochromocytoma and Paraganglioma.
|
30977831 |
2019 |
Paraganglioma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Array-based comparative genomic hybridisation (aCGH) analysis and multiplex ligation-dependent probe amplification (MLPA) revealed a novel deletion of exon 1-3 in the SDHB gene, suspected to predispose to paraganglioma (PGL)/pheochromocytoma (PHEO) syndrome type 4.
|
29292578 |
2018 |
Paraganglioma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Germline pathogenic variants in <i>SDHB/SDHC</i>/<i>SDHD</i> are the most frequent causes of inherited phaeochromocytomas/paragangliomas.
|
29386252 |
2018 |
Paraganglioma
|
0.700 |
Biomarker
|
disease |
BEFREE |
SDH status should be considered for all patients with paraganglioma as it may be important for patients' lifelong follow-up as well as for familial considerations.
|
29575826 |
2018 |
Paraganglioma
|
0.700 |
Biomarker
|
disease |
CTD_human |
Krebs-cycle-deficient hereditary cancer syndromes are defined by defects in homologous-recombination DNA repair.
|
30013182 |
2018 |
Paraganglioma
|
0.700 |
Biomarker
|
disease |
BEFREE |
Moreover, known epigenetic alterations triggered by mutated SDHB in paragangliomas suggest that underexpressed SDHB in oligodendrogliomas may support and possibly enhance the epigenetic reprogramming induced by the IDH-mutation.
|
29890994 |
2018 |
Paraganglioma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Here, we report a unique case of a patient with a primary left ventricular cardiac paraganglioma (PGL) and describe the role of a medical genetics assessment leading to the identification of a rare variant in the SDHB gene to be the causative etiology of this cardiac tumor.
|
28891197 |
2018 |
Paraganglioma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
However, negative SDHB immunostaining has also been found in a subset of PGLs that lack SDHx mutations.
|
29126304 |
2018 |
Paraganglioma
|
0.700 |
Biomarker
|
disease |
BEFREE |
Thus, we characterized SDHB and FH IHC in a large cohort of PGL/PCC patients (n = 41) at our institution who were evaluated for hereditary PGL/PCC syndromes.
|
29079178 |
2018 |
Paraganglioma
|
0.700 |
Biomarker
|
disease |
BEFREE |
However, there are no models for SDH-deficient paragangliomas.
|
29967109 |
2018 |
Paraganglioma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In summary, the present study identified a potential role for the tumor microenvironment in influencing phenotypic features of SDHB-mutated PGLs, providing a basis for the use of therapies targeted towards the tumor microenvironment.
|
30159755 |
2018 |
Paraganglioma
|
0.700 |
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 |
Paraganglioma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The paraganglioma-pheochromocytoma syndromes (SDHx) comprise familial gene mutations, of which the SDHB gene mutation carries a high rate of malignancy.
|
28752085 |
2017 |
Paraganglioma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Paragangliomas of the organ of Zuckerkandl (OZ-PGL) are rare tumors that, in >70% of cases, occur in association with succinate dehydrogenase complex iron sulfur subunit B (<i>SDHB</i>) or <i>SDHD</i> gene mutations.
|
28454217 |
2017 |
Paraganglioma
|
0.700 |
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
|
0.700 |
Biomarker
|
disease |
BEFREE |
All wild-type PCCs/PGLs exhibited SDHB immunoreactivity, while immunostaining for SDHA was positive in 93.8% cases and weakly diffuse in one (6.2%).
|
28179334 |
2017 |
Paraganglioma
|
0.700 |
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 |
Paraganglioma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in mitochondrial complex II (succinate dehydrogenase; SDH) genes predispose to paraganglioma tumors that show constitutive activation of hypoxia responses.
|
28204537 |
2017 |