|
Paraganglioma
|
0.700 |
CausalMutation
|
disease |
CGI |
|
|
|
|
Paraganglioma
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
Paraganglioma
|
0.700 |
Biomarker
|
disease |
HPO |
|
|
|
|
Paraganglioma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
(18)F-DOPA PET is a sensitive and specific imaging modality for the detection and staging of pheochromocytomas and paragangliomas in different genotypes, including VHL-, SDHB-, and SDHD-mutation carriers, and in patients with no germline mutation.
|
22836345 |
2012 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
Paraganglioma (PGL) patients and succinate dehydrogenase (SDH) gene mutation carriers at risk for PGLs have a decreased quality of life (QoL).
|
23969183 |
2013 |
|
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 |
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 |
Biomarker
|
disease |
BEFREE |
SDHB-related PGLs are known in particular for their high malignant potential.
|
17973943 |
2008 |
|
Paraganglioma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
SDH genetic testing, including tests for large genomic deletions, is indicated in all patients with head and neck and/or thoracic-abdominal or pelvic paraganglioma and can be targeted according to clinical criteria.
|
19454582 |
2009 |
|
Paraganglioma
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
SDHB protein expression was absent in all 102 phaeochromocytomas and paragangliomas with an SDHB, SDHC, or SDHD mutation, but was present in all 65 paraganglionic tumours related to multiple endocrine neoplasia type 2, von Hippel-Lindau disease, and neurofibromatosis type 1.
|
19576851 |
2009 |
|
Paraganglioma
|
0.700 |
Biomarker
|
disease |
BEFREE |
SDH-related pheochromocytoma and paraganglioma.
|
20833333 |
2010 |
|
Paraganglioma
|
0.700 |
Biomarker
|
disease |
BEFREE |
PGL4 is characterized by pheochromocytoma and paraganglioma, type 2 (SDHB negative) gastrointestinal stromal tumors and renal tumors, which are usually classified as carcinoma.
|
21934479 |
2011 |
|
Paraganglioma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
SDH mutations establish a hypermethylator phenotype in paraganglioma.
|
23707781 |
2013 |
|
Paraganglioma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
SDHB mutation carriers are predisposed to developing paragangliomas (PGLs).
|
25047027 |
2014 |
|
Paraganglioma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
SDHB mutation status and tumor size but not tumor grade are important predictors of clinical outcome in pheochromocytoma and abdominal paraganglioma.
|
27839933 |
2017 |
|
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 |
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 |
LHGDN |
A case of familial paraganglioma syndrome type 4 caused by a mutation in the SDHB gene.
|
17143317 |
2006 |
|
Paraganglioma
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
Ablation of SDH activity in SDHD-null cell lines or reduction of the SDHD or SDHB protein levels elicited by siRNA-induced gene silencing did not induce miR-210 whereas the presence of SDH mutations in PGLs and tumor-derived cell lines was associated with mild increase of miR-210 and the presence of a heterogeneous, HIF-1α-positive and HIF-1α-negative, tumor cell population.
|
28036268 |
2017 |
|
Paraganglioma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
About 60% of Pheochromocytoma (PCC) and Paraganglioma (PGL) patients have either germline or somatic mutations in one of the 12 proposed disease causing genes; SDHA, SDHB, SDHC, SDHD, SDHAF2, VHL, EPAS1, RET, NF1, TMEM127, MAX and H-RAS.
|
24466223 |
2014 |
|
Paraganglioma
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
ACC = adrenal cortical carcinoma; APA = aldosterone-producing adenoma; APCC = aldosterone-producing cell cluster; CAH = congenital adrenal hyperplasia; CT = computed tomography; DOTATATE = [<sup>68</sup>Ga]-DOTA(0)-Tyr(3)-octreotate; FDG = fluorodeoxyglucose; FH = fumarate hydratase; MR = miner-alocorticoid; MDH2 = malate dehydrogenase 2; PCC = pheochromocytoma; PET = positron emission tomography; PGL = paraganglioma; SCS = subclinical cortisol-secreting; SDHB = succinate dehydrogenase subunit B; TCGA = The Cancer Genome Atlas.
|
28332880 |
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 |
GeneticVariation
|
disease |
BEFREE |
Almost all familial and 11-29% of sporadic PGL are caused by inactivating germline mutations in succinate dehydrogenase (SDH) genes.
|
20208144 |
2010 |
|
Paraganglioma
|
0.700 |
Biomarker
|
disease |
BEFREE |
Although 14 different genes have been linked to paraganglioma/pheochromocytoma, a subgroup of these genes is associated with hereditary paraganglioma-pheochromocytoma, the genes related to mitochondrial succinate dehydrogenase (SDH) including SDHA, SDHB, SDHC, SDHD and the assembly factor SDHAF2.
|
26067997 |
2015 |