Pheochromocytoma
|
0.800 |
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
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
This is the first reported case of simultaneous SDHB and TP53 germline mutations occurring in an individual with a highly aggressive clinical course of pheochromocytoma.
|
31851316 |
2020 |
Pheochromocytoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
Variant type is associated with disease characteristics in SDHB, SDHC and SDHD-linked phaeochromocytoma-paraganglioma.
|
31492822 |
2020 |
Pheochromocytoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Higher risk of phaeochromocytoma/paraganglioma (Phaeo-Pgl) in SDHD than SDHB carriers: an Australian cohort study.
|
30957378 |
2019 |
Pheochromocytoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Main characteristics of patients with MPP were: primary pheochromocytoma in 53% of patients; tumor- or hormone-related symptoms in 57% or 58% of cases; positive plasma or urine hormones in 81% of patients; identification of a mutation in SDHB in 42% of cases.
|
30715419 |
2019 |
Pheochromocytoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
The Role of 68Ga-DOTA-Octreotate PET/CT in Follow-Up of SDH-Associated Pheochromocytoma and Paraganglioma.
|
30977831 |
2019 |
Pheochromocytoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
DNA methylation levels were found significantly higher in metastatic SDHB-PPGLs than in SDHB-PPGLs without metastases.
|
31216007 |
2019 |
Pheochromocytoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
The utility of SDHB and FH immunohistochemistry in patients evaluated for hereditary paraganglioma-pheochromocytoma syndromes.
|
29079178 |
2018 |
Pheochromocytoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Patients harboring germline mutations in the succinate dehydrogenase complex subunit B (SDHB) gene present with pheochromocytomas and paragangliomas (PPGL) that are more likely malignant and clinically aggressive.
|
29623478 |
2018 |
Pheochromocytoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Germline SDHB and SDHD mutations in pheochromocytoma and paraganglioma patients.
|
30352407 |
2018 |
Pheochromocytoma
|
0.800 |
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
|
0.800 |
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
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Without the identification of SDHB deficiency, this patient's personal and familial predisposition to PC, PGL, GIST and metachronous RCCs may have gone undetected despite his RCC diagnosis.
|
30482207 |
2018 |
Pheochromocytoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Individuals that tested positive for this novel SDHB gene variant were counselled and additional clinical evaluation was offered for the identification of HNPGL and/or PHEO.
|
29292578 |
2018 |
Pheochromocytoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We describe a pediatric patient initially considered to have localized neuroblastoma based on anatomical imaging and <sup>123</sup> I-MIBG scan, but subsequent investigations revealed germline succinate dehydrogenase complex iron sulfur subunit B (SDHB) mutation-associated pheochromocytoma with multiple FDG-avid skeletal metastases.
|
28409892 |
2017 |
Pheochromocytoma
|
0.800 |
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 |
Pheochromocytoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Succinate dehydrogenase subunit B (SDHB) gene mutations are associated with an aggressive clinical disease course of pheochromocytoma/paraganglioma (PHEO/PGL).
|
28374168 |
2017 |
Pheochromocytoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We have shown that SDHAF3 interacts directly with SDHB (residue 242 being key to this interaction), and that a variant in SDHAF3 (c.157 T > C [p.Phe53Leu]) may be more prevalent in individuals with PC/PGL, and is hypomorphic via impaired interaction with SDHB.
|
28738844 |
2017 |
Pheochromocytoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
Here, for the first time, we evaluated the effects of <i>SDHB</i> silencing in a three dimension (3D) culture using spheroids of a mouse Pheo cell line silenced or not (wild type/wt/control) for the SDHB subunit.
|
28830936 |
2017 |
Pheochromocytoma
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Leukoencephalopathy due to Complex II Deficiency and Bi-Allelic SDHB Mutations: Further Cases and Implications for Genetic Counselling.
|
27604842 |
2017 |
Pheochromocytoma
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Analysis of SDHAF3 in familial and sporadic pheochromocytoma and paraganglioma.
|
28738844 |
2017 |
Pheochromocytoma
|
0.800 |
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 |
Pheochromocytoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Implications of SDHB genetic testing in patients with sporadic pheochromocytoma.
|
28229225 |
2017 |
Pheochromocytoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Thus, F-FDG PET/CT imaging may be more effective than I-MIBG scintigraphy for the evaluation of pheochromocytomas that are associated with highly malignant characteristics resulting from mutations of the SDHB gene.
|
28650885 |
2017 |
Pheochromocytoma
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
The phenotype of SDHB germline mutation carriers: a nationwide study.
|
28490599 |
2017 |