|
Renal Cell Carcinoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Here we present a systematic review of the SDH genes' mutations and their impact on both RCC diagnosis and prognosis.
|
31579262 |
2019 |
|
Renal Cell Carcinoma
|
0.200 |
Biomarker
|
disease |
BEFREE |
SDHB immunostaining may be positive in renal cell carcinoma associated to germline SDHB deficiency which have other typical morphological features.
|
31092265 |
2019 |
|
Renal Cell Carcinoma
|
0.200 |
Biomarker
|
disease |
BEFREE |
Incidence of succinate dehydrogenase and fumarate hydratase-deficient renal cell carcinoma based on immunohistochemical screening with SDHA/SDHB and FH/2SC.
|
31299266 |
2019 |
|
Renal Cell Carcinoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The last 30 years of research in renal cell carcinoma (RCC) has revealed that the vast majority of RCC histologies share a recurrent pattern of mutations to metabolic genes, including VHL, MTOR, ELOC, TSC1/2, FH, SDH, and mitochondrial DNA.
|
31155438 |
2019 |
|
Renal Cell Carcinoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Of the 254 patients (median age [range], 56 [13-79] years; 179 [70.5%] male; 211 [83.1%] non-Hispanic white), germline mutations were identified in 41 (16.1%); 14 (5.5%) had mutations in syndromic RCC-associated genes (7 in FH, 3 in BAP1, and 1 each in VHL, MET, SDHA, and SDHB).
|
29978187 |
2018 |
|
Renal Cell Carcinoma
|
0.200 |
Biomarker
|
disease |
BEFREE |
Eight RCC (24%) (median age 20.5 years) demonstrated loss of SDHB and were reclassified as SDH-deficient RCCs.
|
28898443 |
2018 |
|
Renal Cell Carcinoma
|
0.200 |
AlteredExpression
|
disease |
BEFREE |
Renal cell carcinoma with angioleiomyoma-like stroma and clear cell papillary renal cell carcinoma: exploring SDHB protein immunohistochemistry and the relationship to tuberous sclerosis complex.
|
29180251 |
2018 |
|
Renal Cell Carcinoma
|
0.200 |
Biomarker
|
disease |
BEFREE |
We identified four renal cell carcinomas with positive TFE3 immunohistochemical staining and negative SDHB staining.
|
27910947 |
2017 |
|
Renal Cell Carcinoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Immunohistochemistry for SDHB and mutation analysis for TMEM127 was performed, in addition to analysis of The Cancer Genome Atlas datasets for SDHX and TMEM127 mutated renal cell carcinomas (RCCs).
|
28646318 |
2017 |
|
Renal Cell Carcinoma
|
0.200 |
Biomarker
|
disease |
BEFREE |
Histologically, the tumor had a mixed pattern of high-grade papillary and collecting duct carcinoma and distinctive pale eosinophilic cytoplasmic inclusions similar to those described in SDHB-deficient RCC.
|
25724004 |
2015 |
|
Renal Cell Carcinoma
|
0.200 |
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 |
|
Renal Cell Carcinoma
|
0.200 |
Biomarker
|
disease |
BEFREE |
Only one case of SDH-deficient renal carcinoma known to be SDHA mutated has been previously reported.
|
26476567 |
2015 |
|
Renal Cell Carcinoma
|
0.200 |
Biomarker
|
disease |
BEFREE |
Eight tumors showed negative staining for SDHB and positive staining for SDHA: a pancreatic neuroendocrine tumor, a macroprolactinoma, two gastric gastrointestinal stromal tumors, an abdominal ganglioneuroma, and three renal cell carcinomas.
|
26259135 |
2015 |
|
Renal Cell Carcinoma
|
0.200 |
AlteredExpression
|
disease |
BEFREE |
Of the six index patients, all RCCs and one PA displayed SDHB immunonegativity in contrast to the other PA and PTC.
|
24096523 |
2014 |
|
Renal Cell Carcinoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
SDHB mutations are also, albeit less frequently, associated with inherited renal cell carcinoma.
|
25004247 |
2014 |
|
Renal Cell Carcinoma
|
0.200 |
Biomarker
|
disease |
BEFREE |
We used immunohistochemistry and antibodies against phospho-specific epitopes to examine the activity of three potential signalling pathways in tumour cells of three genetically confirmed cases of SDHB-associated renal cell carcinomas.
|
24236567 |
2014 |
|
Renal Cell Carcinoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
SDH mutation associated renal cell carcinoma can be an aggressive type of kidney cancer, especially in younger individuals.
|
23083876 |
2012 |
|
Renal Cell Carcinoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
A subset of individuals with SDHB and SDHD germline DNA mutations and variants develop RCC.
|
22351710 |
2012 |
|
Renal Cell Carcinoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Germline mutations in the von Hippel-Lindau disease (VHL) and succinate dehydrogenase subunit B (SDHB) genes can cause inherited phaeochromocytoma and/or renal cell carcinoma (RCC).
|
20959442 |
2011 |
|
Renal Cell Carcinoma
|
0.200 |
GeneticVariation
|
disease |
LHGDN |
Germline SDHB mutations and familial renal cell carcinoma.
|
18728283 |
2008 |
|
Renal Cell Carcinoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Germline mutations in FH predispose individuals to leiomyomas and renal cell cancer (HLRCC), whereas mutations in SDH cause paragangliomas and phaeochromocytomas (HPGL).
|
15987702 |
2005 |
|
Renal Cell Carcinoma
|
0.200 |
Biomarker
|
disease |
BEFREE |
There was no evidence to suggest that somatic mutations occur in the FH, FIH-1, or SDHB TSGs in sporadic RCCs.
|
15220362 |
2004 |
|
Renal Cell Carcinoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
In a population-based registry of symptomatic presentations of phaeochromocytoma/paraganglioma comprising 352 registrants, among whom 16 unrelated registrants were SDHB mutation positive, one family with germline SDHB mutation c.847-50delTCTC had two members with renal cell carcinoma (RCC), of solid histology, at ages 24 and 26 years.Both also had paraganglioma.
|
14685938 |
2004 |
|
Renal Cell Carcinoma
|
0.200 |
Biomarker
|
disease |
BEFREE |
Thus, 40 Wilms' tumours and up to 49 adult RCC were analysed by methylation-specific PCR for promoter methylation at CASP8, CDH1, CDH13, DAPK, MGMT, NORE1A, p14ARF and RARB2 in primary Wilms' tumours and CASP8, CDH1, CDH13, CRBP1, DAPK, MGMT, MT1G, NORE1A, p16INK4a, SDHB and RARB2 in primary RCC.
|
14555992 |
2003 |
|
Renal Cell Carcinoma
|
0.200 |
Biomarker
|
disease |
HPO |
|
|
|