|
Paraganglioma
|
0.500 |
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
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We hypothesised that PC/PGLs containing SDHx or VHL mutations, and succinate dehydrogenase (SDH)-deficient gastrointestinal stromal tumours (GISTs), would overexpress miR-210 relative to non-SDH or -VHL-mutated counterparts. miR-210 was analysed by quantitative PCR in i) 39 PC/PGLs, according to genotype (one SDHA, five SDHB, seven VHL, three NF1, seven RET, 15 sporadic, one unknown) and pathology (18 benign, eight atypical, 11 malignant, two unknown); ii) 18 GISTs, according to SDHB immunoreactivity (nine SDH-deficient and nine SDH-proficient) and iii) two novel SDHB-mutant neurosphere cell lines. miR-210 was higher in SDHx- or VHL-mutated PC/PGLs (7.6-fold) compared with tumours without SDHx or VHL mutations (P=0.0016). miR-210 was higher in malignant than in unequivocally benign PC/PGLs (P=0.05), but significance was lost when benign and atypical tumours were combined (P=0.08).
|
24623741 |
2014 |
|
Paraganglioma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations of the von Hippel-Lindau (VHL) gene are associated with pheochromocytomas and paragangliomas, but the role of VHL in sympathoadrenal homeostasis is unknown.
|
25385837 |
2014 |
|
Paraganglioma
|
0.500 |
Biomarker
|
disease |
BEFREE |
The present study gives a comprehensive picture of alterations in energy metabolism in SDH- and VHL-related PGLs and establishes the interrelationship of energy metabolism and amino acid and purine metabolism in PGLs.
|
25459911 |
2015 |
|
Paraganglioma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Association of urinary bladder paragangliomas with germline mutations in the SDHB and VHL genes.
|
25683602 |
2015 |
|
Paraganglioma
|
0.500 |
Biomarker
|
disease |
BEFREE |
This allowed for reconstructing the life history of individual tumors, identifying somatic mutations as well as copy-number loss of 3p and 11p (VHL subgroup), 1p (Cluster 2), and 17q (NF1 subgroup) as early events in PPGL tumorigenesis.
|
25991818 |
2015 |
|
Paraganglioma
|
0.500 |
Biomarker
|
disease |
BEFREE |
It is unknown whether BAT is specifically affected by altered cellular energy metabolism in patients with SDHx- and VHL-related PGLs.
|
26574955 |
2016 |
|
Paraganglioma
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
RNA expression patterns of HIF2A PGLs (n=6) from 2 patients were compared with normal adrenal medullas (n=8) and other hereditary pseudohypoxic PGLs (VHL: n=13, SDHB: n=15, and SDHD: n=14).
|
27659016 |
2016 |
|
Paraganglioma
|
0.500 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Genetic predisposition to kidney cancer.
|
27899189 |
2016 |
|
Paraganglioma
|
0.500 |
Biomarker
|
disease |
BEFREE |
Neuroendocrine neoplasms such as paragangliomas (PGLs) are particularly appealing for understanding the cancer metabolic adjustments because of their associations with deregulations of metabolic enzymes, such as succinate dehydrogenase (SDH), and the von Hippel Lindau (VHL) gene involved in HIF-1α stabilization.
|
28036268 |
2017 |
|
Paraganglioma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
PCC/PGL are associated with a variety of hereditary syndromes, comprising genetic alterations in RET, NF1, VHL, and SDHx genes, the last 2 being involved in regulating the hypoxia pathway.
|
28231563 |
2016 |
|
Paraganglioma
|
0.500 |
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
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Within the paediatric cohort, bilateral PCC (60% vs. 5%, p=0.002), PCC+sPGL (30% vs. 0%, p=0.03) and occurrence of a second PCC/PGL (30% vs. 0%, p=0.03) were significantly more frequent among children with VHL mutations than others.
|
28432847 |
2017 |
|
Paraganglioma
|
0.500 |
Biomarker
|
disease |
BEFREE |
This profile resembles that of SDHx- or VHL-mutated PGLs but not of PGLs with decreased VHL copy number, pointing to SDHC rather than VHL as the pathogenic driver.
|
29126304 |
2018 |
|
Paraganglioma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The aim of this study was to evaluate whether CA9 immunostaining could be used as a tool to predict the presence or validate the pathogenicity of VHL gene mutations in paraganglioma.
|
31383958 |
2020 |