|
Neurofibromatosis 1
|
0.090 |
Biomarker
|
disease |
BEFREE |
The prevalence of PHEO/PGL in patients with NF1 was 2·9%.
|
27460956 |
2017 |
|
Neurofibromatosis 1
|
0.090 |
Biomarker
|
disease |
BEFREE |
A total of 121 consecutive, unrelated, index PCC/PGL patients underwent genetic testing for five PCC/PGL susceptibility genes (RET, VHL, SDHB, SDHD and SDHC) and were evaluated for clinical diagnosis of neurofibromatosis type1 (NF1).
|
28432847 |
2017 |
|
Neurofibromatosis 1
|
0.090 |
Biomarker
|
disease |
BEFREE |
We found that the succinate-to-fumarate ratio was significantly higher in the SDHB- and SDHD-related PGLs than in apparently sporadic and neurofibromatosis 1-related PHEOs/PGLs (P = .0376).
|
24189137 |
2014 |
|
Neurofibromatosis 1
|
0.090 |
GeneticVariation
|
disease |
BEFREE |
Patients with NF1 and MEN 2 could be discriminated from those with VHL, SDHB, and SDHD gene mutations in 99% of cases by the combination of normetanephrine and metanephrine.
|
21262951 |
2011 |
|
Neurofibromatosis 1
|
0.090 |
GeneticVariation
|
disease |
BEFREE |
Up to 30% of pheochromocytomas and paragangliomas are associated with germline RET, Von Hippel-Lindau (VHL), neurofibromatosis type I (NF1), and succinate dehydrogenase subunits (SDHB, SDHC, and SDHD) mutations.
|
20236688 |
2010 |
|
Neurofibromatosis 1
|
0.090 |
GeneticVariation
|
disease |
BEFREE |
Heritable non-SDHx HNP might occur in von Hippel-Lindau disease (VHL, VHL gene), multiple endocrine neoplasia type 2 (MEN2, RET gene), and neurofibromatosis type 1 (NF1, NF1 gene).
|
19336503 |
2009 |
|
Neurofibromatosis 1
|
0.090 |
Biomarker
|
disease |
BEFREE |
In 166 patients (25.9%) the disease was familial and caused by germline mutations in VHL (56), SDHB (34), SDHD (31), RET (31) or NF1 (14), causing von Hippel-Lindau disease, SDHB- or SDHD-PH/FPGL syndromes, multiple endocrine neoplasia type 2 (MEN 2) and type 1 neurofibromatosis (NF1), respectively.
|
17121518 |
2006 |
|
Neurofibromatosis 1
|
0.090 |
GeneticVariation
|
disease |
BEFREE |
So far, germline mutations in five genes have been identified to be responsible for familial PHEOs: the von Hippel-Lindau gene, which causes von Hippel-Lindau syndrome, the RET gene leading to multiple endocrine neoplasia type 2, the neurofibromatosis type 1 gene, which is associated with von Recklinghausen's disease and the genes encoding the B and D subunits of mitochondrial succinate dehydrogenase (SDHB, SDHD), which are associated with familial paragangliomas and PHEOs.
|
17119341 |
2006 |
|
Neurofibromatosis 1
|
0.090 |
GeneticVariation
|
disease |
BEFREE |
Phaeochromocytoma is a neural-crest-derived tumour that may be a feature of several familial cancer syndromes including von Hippel-Lindau (VHL) disease, multiple endocrine neoplasia type 2 (MEN 2), neurofibromatosis type 1 (NF1) and germline succinate dehydrogenase subunit (SDHB and SDHD) mutations.
|
15788647 |
2005 |