|
Adrenal Gland Pheochromocytoma
|
0.200 |
Biomarker
|
disease |
HPO |
|
|
|
|
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 |
Recently, nuclear genes encoding two mitochondrial complex II subunit proteins, SDHD and SDHB, have been found to be associated with the development of familial pheochromocytomas and paragangliomas (hereditary pheochromocytoma/paraganglioma syndrome: HPPS).
|
19261994 |
2009 |
|
Adrenal Gland Pheochromocytoma
|
0.200 |
Biomarker
|
disease |
BEFREE |
In this small series HN-PGL occurs as frequently as pheochromocytoma and extra-adrenal PGL.
|
19368708 |
2009 |
|
Adrenal Gland Pheochromocytoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
In PCC and PGL, genetic mutations account for approximately 30% of functional (secrete catecholamines) and nonfunctional cases.
|
20505258 |
2010 |
|
Adrenal Gland Pheochromocytoma
|
0.200 |
Biomarker
|
disease |
BEFREE |
ACC = adrenal cortical carcinoma; APA = aldosterone-producing adenoma; APCC = aldosterone-producing cell cluster; CAH = congenital adrenal hyperplasia; CT = computed tomography; DOTATATE = [<sup>68</sup>Ga]-DOTA(0)-Tyr(3)-octreotate; FDG = fluorodeoxyglucose; FH = fumarate hydratase; MR = miner-alocorticoid; MDH2 = malate dehydrogenase 2; PCC = pheochromocytoma; PET = positron emission tomography; PGL = paraganglioma; SCS = subclinical cortisol-secreting; SDHB = succinate dehydrogenase subunit B; TCGA = The Cancer Genome Atlas.
|
28332880 |
2017 |
|
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 |
Germline mutations in the succinate dehydrogenase genes (SDHA, SDHB, SDHC, and SDHD) are established as causes of pheochromocytoma/paraganglioma, renal carcinoma, and gastrointestinal stromal tumor.
|
24625421 |
2014 |
|
Adrenal Gland Pheochromocytoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We here report a 31-year-old patient with a known SDHD mutation whose disease has been revealed by a left PHEO during childhood and who presented at age 29 years a large paraganglioma of the right jugular foramen, a concomitant PHEO of the left adrenal and 2 retroperitoneal paragangliomas.
|
31348302 |
2019 |
|
Adrenal Gland Pheochromocytoma
|
0.200 |
Biomarker
|
disease |
BEFREE |
Molecular characterization of novel germline deletions affecting SDHD and SDHC in pheochromocytoma and paraganglioma patients.
|
19546167 |
2009 |
|
Adrenal Gland Pheochromocytoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Human genetic studies have now shown that 25-30% of patients have hereditary PH due to a germline mutation in the SDHB, SDHD, VHL, RET or NF1 gene and that the identification of a germline SDHB mutation is associated with a high risk of malignancy and a poor prognosis in PH/PGL patients.3.
|
18307724 |
2008 |
|
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 |
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 |
In patients with PHEO and/or PGL genetic testing for germline mutations in SDHD and SDHB has been recommended, in addition to the PHEO susceptibility genes VHL and RET.
|
17102077 |
2006 |
|
Adrenal Gland Pheochromocytoma
|
0.200 |
Biomarker
|
disease |
BEFREE |
The present findings for the first time demonstrate a significantly increased succinate-to-fumarate ratio in SDHB/D-related PGLs and thus suggest this ratio may be used as a new metabolic marker for the detection of SDHB/D-related PHEOs/PGLs.
|
24189137 |
2014 |
|
Adrenal Gland Pheochromocytoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Germline mutations in Von Hippel-Lindau (VHL), succinate dehydrogenase subunit B (SDHB), SDHC, and SDHD have been detected in individuals with synchronous or metachronous pheochromocytoma/paraganglioma (PHEO/PGL) and renal cell carcinoma (RCC).
|
25800244 |
2015 |
|
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 |
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 |
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 |
Biomarker
|
disease |
BEFREE |
The succinate dehydrogenase (SDH) complex exerts a fundamental role in mitochondrial cellular respiration and mutations in its encoding genes (SDHA, SDHB, SDHC, SDHD, collectively referred to as SDHx) lead to a number of inherited endocrine cancer predisposition syndromes, including familial paraganglioma/pheochromocytoma.
|
24781345 |
2014 |
|
Adrenal Gland Pheochromocytoma
|
0.200 |
Biomarker
|
disease |
BEFREE |
Therefore, we propose that mutation screening for FH should be included in PCC/PGL genetic testing, at least for tumors with malignant behavior.
|
24334767 |
2014 |
|
Adrenal Gland Pheochromocytoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Based on the fact that mutation frequency of the SDHD gene is less than that of allelic loss at chromosome11q, where the SDHD gene is located, this region may contain other candidate tumor-suppressor genes involved in pathogenesis of PCC/PGL.
|
17526943 |
2006 |
|
Adrenal Gland Pheochromocytoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Here we explore the underlying molecular basis of three cases of paraganglioma or pheochromocytoma that came to our attention due to apparent maternal transmission of an SDHD mutation.
|
25300370 |
2014 |
|
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 |
Allelic losses of the SDHB gene were present in two phaeochromocytoma and one insulinoma cases and allelic losses of SDHD were present in one phaeochromocytoma case.
|
18510707 |
2008 |