|
Adrenal Gland Pheochromocytoma
|
0.200 |
Biomarker
|
disease |
HPO |
|
|
|
|
Adrenal Gland Pheochromocytoma
|
0.200 |
Biomarker
|
disease |
BEFREE |
We sought to determine whether SDHD plays a role in the development of sporadic pheochromocytomas and performed a mutation and deletion analysis of SDHD.
|
11156372 |
2000 |
|
Adrenal Gland Pheochromocytoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
A germline SDHD frameshift mutation was identified in a two-generation family consisting of four children with phaeochromocytoma, but somatic mutations were not detected in 24 sporadic phaeochromocytoma tumours.
|
11323050 |
2001 |
|
Adrenal Gland Pheochromocytoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We sequenced the entire coding region of the SDHD gene in a series of pheochromocytomas.
|
11397905 |
2001 |
|
Adrenal Gland Pheochromocytoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Recently, pheochromocytoma susceptibility has been associated with germline SDHD mutations.
|
11404820 |
2001 |
|
Adrenal Gland Pheochromocytoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The involvement of SDHD mutations in familial phaeochromocytoma and/or paraganglioma predisposition is of considerable interest since other studies have shown these alterations to be associated with highly expressed angiogenic factors.
|
12111639 |
2002 |
|
Adrenal Gland Pheochromocytoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Tumorigenesis of NF1-associated pheochromocytomas remains unknown, as does tumor formation (i.e., carotid body tumor) in patients with germline mutations in SDHB, SDHC, and SDHD, genes that encode subunits of the mitochondrial complex II, the smallest complex in the respiratory chain.
|
12381538 |
2002 |
|
Adrenal Gland Pheochromocytoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
To further investigate the role of SDHD and SDHB in the development of these tumours we determined the occurrence of germline SDHD and SDHB mutations in four patients with a family history of phaeochromocytoma with associated head and neck paraganglioma, one patient with a family history of phaeochromocytoma only and two patients with apparently sporadic extra-adrenal phaeochromocytoma, one of whom had early onset disease.
|
12618761 |
2003 |
|
Adrenal Gland Pheochromocytoma
|
0.200 |
Biomarker
|
disease |
BEFREE |
Recent studies have demonstrated that SDHD, a nuclear gene encoding one of the mitochondrial complex II subunits, acts as a tumor-suppressor for hereditary paragangliomas and pheochromocytomas.
|
12883710 |
2004 |
|
Adrenal Gland Pheochromocytoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
These studies indicate that the frequency of germline mutations associated with isolated pheochromocytoma is higher than previously estimated, with both hospital-based series and a large population-based series indicating that the frequency of germline mutations in RET, VHL, SDHB, and SDHD taken together approximates 20%.
|
12928344 |
2003 |
|
Adrenal Gland Pheochromocytoma
|
0.200 |
Biomarker
|
disease |
BEFREE |
Hence, mutation analysis of VHL, RET, SDHB, and SDHD is generally recommended in patients with pheochromocytoma regardless of their family history or other features suggestive for a hereditary form.
|
14674304 |
2004 |
|
Adrenal Gland Pheochromocytoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Combining our results with those from two other large studies in which both SDHB and SDHD have been analysed, SDHB mutations were most commonly associated with phaeochromocytoma susceptibility and SDHD with the development of HNPGL (P = 0.025).
|
14974914 |
2003 |
|
Adrenal Gland Pheochromocytoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Somatic loss of maternal chromosome 11 causes parent-of-origin-dependent inheritance in SDHD-linked paraganglioma and phaeochromocytoma families.
|
15064708 |
2004 |
|
Adrenal Gland Pheochromocytoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The deleted region harbours the tumour suppressor gene SDHD that is frequently mutated in paraganglioma and pheochromocytoma, which are, like neuroblastoma, tumours originating from the neural crest.
|
15331017 |
2004 |
|
Adrenal Gland Pheochromocytoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Multiple pheochromocytomas and paragangliomas in a young patient carrying a SDHD gene mutation.
|
15365827 |
2004 |
|
Adrenal Gland Pheochromocytoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
All patients with an SDHD mutation developed extra-adrenal tumors (pheochromocytomas or PGLs) at presentation or during follow-up.
|
15774781 |
2005 |
|
Adrenal Gland Pheochromocytoma
|
0.200 |
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 |
|
Adrenal Gland Pheochromocytoma
|
0.200 |
Biomarker
|
disease |
BEFREE |
Only SDHD and SDHB have so far been implicated in the pathogenesis of pheochromocytoma.
|
15883706 |
2005 |
|
Adrenal Gland Pheochromocytoma
|
0.200 |
Biomarker
|
disease |
BEFREE |
Mutations in the SDHB (1p35-36) and SDHD subunits (11q23) give rise to the paraganglioma syndromes (PGL), namely PGL 4 and PGL 1, and generate paraganglioma and pheochromocytoma.
|
15883710 |
2005 |
|
Adrenal Gland Pheochromocytoma
|
0.200 |
Biomarker
|
disease |
BEFREE |
Mutations in VHL, RET, NF1, SDHB, SDHC, and SDHD can give rise to pheochromocytoma/paraganglioma.
|
16098460 |
2005 |
|
Adrenal Gland Pheochromocytoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Germline mutations of SDHD and SDHB are a major cause of the hereditary forms of the tumors paraganglioma and pheochromocytoma.
|
16288654 |
2005 |
|
Adrenal Gland Pheochromocytoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Germline SDHB and SDHD mutations also lead to increased expression of HIF target genes, but it appears that phaeochromocytoma susceptibility in VHL disease cannot be attributed to HIF activation alone.
|
16728571 |
2006 |
|
Adrenal Gland Pheochromocytoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
In addition, we screened for mutations in exons 9, 11, 13, and 17 of the c-kit gene in GIST and the succinate dehydrogenase subunit D (SDHD) gene in the pheochromocytoma, but we did not detect any somatic mutations.
|
16741618 |
2006 |
|
Adrenal Gland Pheochromocytoma
|
0.200 |
Biomarker
|
disease |
BEFREE |
Twenty-seven patients with bilateral adrenal and/or extraadrenal abdominal pheochromocytoma not carrying germline mutations of the genes VHL, RET, SDHB, and SDHD were selected from the European-American pheochromocytoma registry.
|
16787982 |
2006 |
|
Adrenal Gland Pheochromocytoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Activation of the hypoxia-inducible transcription factors HIF-1 and HIF-2 and a HIF-independent defect in developmental apoptosis have been implicated in the pathogenesis of pheochromocytoma (PCC) associated with VHL, SDHB, and SDHD mutations.
|
16954163 |
2006 |