|
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 |
|
Gastrointestinal Stromal Tumors
|
0.800 |
GeneticVariation
|
group |
BEFREE |
Germline mutations in SDH genes ( SDHA, SDHB, SDHC, or SDHD) suggest Carney-Stratakis syndrome, a paraganglioma syndrome with predisposition for GIST.
|
30301441 |
2019 |
|
Gastrointestinal Stromal Tumors
|
0.800 |
GeneticVariation
|
group |
BEFREE |
Herein, we present a unique case of SDH-deficient GIST with an unusual heterogeneous SDHA and SDHB staining pattern and mutations detected in the SDHA and KIT gene.
|
31124195 |
2019 |
|
Gastrointestinal Stromal Tumors
|
0.800 |
Biomarker
|
group |
BEFREE |
Under these circumstances, we investigated whether MGMT methylation is preferentially found in SDH-deficient cases (identified by SDHB immunohistochemistry) by analyzing 48 pathogenetically heterogeneous GISTs by methylation-specific PCR, as a premise for possible investigations on the use of alkylating drugs in these tumors.
|
30616628 |
2019 |
|
Gastrointestinal Stromal Tumors
|
0.800 |
Biomarker
|
group |
BEFREE |
Then SDH gene mutations and promoter methylation were detected by DNA sequencing and methylation-specific polymerase chain reaction, respectively, and the clinical and pathological data of SDH-deficient GISTs patients were collected and analyzed accordingly.
|
31273876 |
2019 |
|
Gastrointestinal Stromal Tumors
|
0.800 |
Biomarker
|
group |
BEFREE |
Gain of FGF4 is a frequent event in KIT/PDGFRA/SDH/RAS-P WT GIST.
|
30887595 |
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 |
|
Gastrointestinal Stromal Tumors
|
0.800 |
GeneticVariation
|
group |
BEFREE |
We describe a unique patient-derived xenograft (PDX) and cell culture model of succinate dehydrogenase-deficient gastrointestinal stromal tumor (SDH-deficient GIST), a rare mesenchymal tumor that can occur in association with paragangliomas in hereditary and non-hereditary syndromes.
|
29967109 |
2018 |
|
Gastrointestinal Stromal Tumors
|
0.800 |
CausalMutation
|
group |
CLINVAR |
Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD.
|
29386252 |
2018 |
|
Gastrointestinal Stromal Tumors
|
0.800 |
Biomarker
|
group |
BEFREE |
However, SDHB immunohistochemistry (IHC) on tumor tissues or <i>SDHx</i> genetic testing on blood or tumor samples should be performed in patients affected by GISTs, RCCs or PAs with clinicopathologic phenotypes suggesting an etiologic role of <i>SDHx</i> genes.
|
28924001 |
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 |