|
Gastrointestinal Stromal Tumors
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Germline mutations in SDH genes ( SDHA, SDHB, SDHC, or SDHD) suggest Carney-Stratakis syndrome, a paraganglioma syndrome with predisposition for GIST.
|
30301441 |
2019 |
|
Gastrointestinal Stromal Tumors
|
0.200 |
AlteredExpression
|
group |
BEFREE |
An alternate mechanism leading to GIST oncogenesis is deficiency in the succinate dehydrogenase (SDH) enzyme complex resulting from genetic or epigenetic inactivation of one of the four SDH subunit genes (SDHA, SDHB, SDHC, SDHD, collectively referred to as SDHX).
|
28768491 |
2017 |
|
Gastrointestinal Stromal Tumors
|
0.200 |
GeneticVariation
|
group |
BEFREE |
In 1 of the control GIST cases molecular genetic analysis revealed an SDHD sequence change in addition to a mutation in KIT exon 11.
|
25205505 |
2015 |
|
Gastrointestinal Stromal Tumors
|
0.200 |
Biomarker
|
group |
BEFREE |
Tissues from 16 CTr tumors (n=12), those with isolated GIST (n=1), and those with CSS caused by SDHC (n=1) and SDHD (n=2) mutations were studied by electron microscopy (EM).
|
25808178 |
2015 |
|
Gastrointestinal Stromal Tumors
|
0.200 |
Biomarker
|
group |
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 |
|
Gastrointestinal Stromal Tumors
|
0.200 |
GeneticVariation
|
group |
BEFREE |
SDH-deficient gastrointestinal stromal tumors (dSDH GISTs) collectively manifest similar phenotypes, including hypermethylated epigenomic signatures, tendency to occur in pediatric patients, and lack of KIT/PDGFRA mutations. dSDH GISTs often harbor deleterious mutations in SDH subunit genes (SDHA, SDHB, SDHC, and SDHD, termed SDHx), but some are SDHx wild type (WT).
|
25540324 |
2014 |
|
Gastrointestinal Stromal Tumors
|
0.200 |
Biomarker
|
group |
BEFREE |
However, germline mutations of the genes encoding SDH subunits A, B, C or D (SDHA, SDHB, SDHC or SDHD; collectively SDHx) are also identified in GISTs.
|
23174939 |
2013 |
|
Gastrointestinal Stromal Tumors
|
0.200 |
GeneticVariation
|
group |
BEFREE |
PHEO/PGL associated with SDHA mutation also show negative staining for SDHA as well as SDHB.A unique subgroup of gastrointestinal stromal tumours (GISTs) are driven by mitochondrial complex 2 dysfunction.
|
22544211 |
2012 |
|
Gastrointestinal Stromal Tumors
|
0.200 |
Biomarker
|
group |
BEFREE |
Recently, mutations in SDHB and SDHC (which encode succinate dehydrogenase subunits B and C, respectively) but not in SDHA and SDHD (which encode subunits A and D, respectively) were identified in KIT/PDGFRA wild-type GISTs.
|
21505157 |
2011 |
|
Gastrointestinal Stromal Tumors
|
0.200 |
Biomarker
|
group |
BEFREE |
Eleven out of 14 (79%) patients with PGLs of the organ of Zuckerkandl were found to have mutations in the SDHB (9) or SDHD (2) genes; one patient was found to have the Carney-Stratakis syndrome (CSS), and his PGL was discovered during surgery for gastrointestinal stromal tumor.
|
20418362 |
2010 |
|
Gastrointestinal Stromal Tumors
|
0.200 |
GeneticVariation
|
group |
BEFREE |
In a separate condition, in which the association (or dyad) of GISTs with PGLs is inherited in an autosomal dominant manner (Carney-Stratakis syndrome, CSS), germline mutations of the SDHB, SDHC and SDHD genes (but not KIT or PDFGRA) were found; GISTs in this condition were caused by SDH deficiency.
|
19522824 |
2009 |
|
Gastrointestinal Stromal Tumors
|
0.200 |
GeneticVariation
|
group |
BEFREE |
This editorial summarizes some of these advances: the identification of the AIP, and the PDE11A and PDE8B genes by genome-wide association (GWA) studies as predisposing genes for pituitary and adrenal tumours, respectively, the discovery of p27 mutations in a new form of MEN similar to MEN type 1 (MEN 1) that is now known as MEN 4, the molecular investigations of Carney triad (CT), a disorder that associates paragangliomas (PGLs), gastrointestinal stromal tumour (GISTs), and pulmonary chondromas (PCH) with pheochromocytomas and adrenocortical adenomas and other lesions, and the molecular elucidation of the association of GISTs with paragangliomas (Carney-Stratakis syndrome) that is now known to be because of SDHB, SDHC, and SDHD mutations.
|
19522821 |
2009 |
|
Gastrointestinal Stromal Tumors
|
0.200 |
Biomarker
|
group |
BEFREE |
Inactivating mutations of the mitochondrial complex II succinate dehydrogenase (SDH) enzyme subunits SDHB, SDHC, and SDHD are found in PGLs, gain-of-function mutations of c-kit (KIT), and platelet-derived growth factor receptor A (PDGFRA) in GISTs.
|
17535989 |
2007 |
|
Gastrointestinal Stromal Tumors
|
0.200 |
GeneticVariation
|
group |
LHGDN |
Familial gastrointestinal stromal tumors and germ-line mutations.
|
17804857 |
2007 |
|
Gastrointestinal Stromal Tumors
|
0.200 |
GeneticVariation
|
group |
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 |
|
Gastrointestinal Stromal Tumors
|
0.200 |
Biomarker
|
group |
HPO |
|
|
|