|
Gastrointestinal Stromal Tumors
|
0.100 |
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
|
0.100 |
Biomarker
|
group |
BEFREE |
Then SDH gene mutations and promoter methylation were detected by DNA sequencing and methylation-specific polymerase chain reaction, respectively, and the clinical and pathological data of SDH-deficient GISTs patients were collected and analyzed accordingly.
|
31273876 |
2019 |
|
Gastrointestinal Stromal Tumors
|
0.100 |
Biomarker
|
group |
BEFREE |
Gain of FGF4 is a frequent event in KIT/PDGFRA/SDH/RAS-P WT GIST.
|
30887595 |
2019 |
|
Gastrointestinal Stromal Tumors
|
0.100 |
GeneticVariation
|
group |
BEFREE |
We describe a unique patient-derived xenograft (PDX) and cell culture model of succinate dehydrogenase-deficient gastrointestinal stromal tumor (SDH-deficient GIST), a rare mesenchymal tumor that can occur in association with paragangliomas in hereditary and non-hereditary syndromes.
|
29967109 |
2018 |
|
Gastrointestinal Stromal Tumors
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The majority of gastrointestinal stromal tumors (GIST) are driven by KIT, PDGFRA, or, less commonly, BRAF mutations, and SDH gene inactivation is involved in a limited fraction of gastric lesions.
|
27390349 |
2017 |
|
Gastrointestinal Stromal Tumors
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The great majority of GISTs harbour mutually exclusive activating mutations in genes coding for the type III receptor tyrosine kinases KIT and PDGFRA; less commonly, GISTs have also been reported to display mutations elsewhere, including BRAF and NF1 and SDH-complex genes.
|
27943096 |
2017 |
|
Gastrointestinal Stromal Tumors
|
0.100 |
Biomarker
|
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
|
0.100 |
GeneticVariation
|
group |
BEFREE |
KIT, PDGFRA, NF1 and SDH mutations are alternate initiating events, fostering hyperplasia in gastrointestinal stromal tumours (GISTs), and additional genetic alterations are required for progression to malignancy.
|
28270683 |
2017 |
|
Gastrointestinal Stromal Tumors
|
0.100 |
Biomarker
|
group |
BEFREE |
Currently, little is known about differences in miRNA expression between KIT/PDGFRA mutant and KIT/PDGFRA wild-type (WT)-SDH deficient gastrointestinal stromal tumors (GIST).
|
27625077 |
2016 |
|
Gastrointestinal Stromal Tumors
|
0.100 |
Biomarker
|
group |
BEFREE |
Long-term follow-up of patients with metastatic GIST treated with regorafenib suggests particular benefit among patients with primary KIT exon 11 mutations and those with SDH-deficient GIST.
|
27371698 |
2016 |
|
Gastrointestinal Stromal Tumors
|
0.100 |
GeneticVariation
|
group |
BEFREE |
GISTs with SDH mutations are multinodular/bilobed/dumb-bell shape tumour masses with mucosal ulceration and histologically characterised by fibrous bands around and within nodules of epithelioid or mixed epithelioid/spindle cells.
|
27317811 |
2016 |
|
Gastrointestinal Stromal Tumors
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Genetic screening confirmed the diagnosis of Carney-Stratakis syndrome, an SDH-D germline mutation leading to GIST and multifocal paragangliomas.
|
25883251 |
2015 |
|
Gastrointestinal Stromal Tumors
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Good survival outcome of metastatic SDH-deficient gastrointestinal stromal tumors harboring SDHA mutations.
|
25188872 |
2015 |
|
Gastrointestinal Stromal Tumors
|
0.100 |
Biomarker
|
group |
BEFREE |
This study strengthens the etiological association of SDH genes with pituitary neoplasia, renal tumorigenesis, and gastric gastrointestinal stromal tumors.
|
26259135 |
2015 |
|
Gastrointestinal Stromal Tumors
|
0.100 |
Biomarker
|
group |
BEFREE |
An alternate mechanism of oncogenesis through loss of function of the succinate-dehydrogenase (SDH) enzyme complex has been identified for a subset of these "wild type" GISTs.
|
26555092 |
2015 |
|
Gastrointestinal Stromal Tumors
|
0.100 |
Biomarker
|
group |
BEFREE |
Among gastrointestinal stromal tumors (GISTs) of 10-15% are negative for KIT and PDGFRA, and most of these cases are SDH deficient.
|
25427437 |
2015 |
|
Gastrointestinal Stromal Tumors
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Additionally, 36 gastrointestinal stromal tumors (GISTs) were added to explore an association between TERT promoter mutations and SDH deficiency.
|
24951106 |
2014 |
|
Gastrointestinal Stromal Tumors
|
0.100 |
Biomarker
|
group |
BEFREE |
SDH-deficient GISTs have characteristic morphologic features including multinodular gastric wall involvement, often multiple separate tumors, common lymphovascular invasion, and occasional lymph node metastases.
|
24886695 |
2014 |
|
Gastrointestinal Stromal Tumors
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Succinate dehydrogenase-deficient gastrointestinal stromal tumors (SDH-deficient GISTs) are a unique class of GIST defined by negative immunohistochemical staining for succinate dehydrogenase B (SDHB).
|
23060355 |
2013 |
|
Gastrointestinal Stromal Tumors
|
0.100 |
GeneticVariation
|
group |
BEFREE |
All wild-type GISTs had multiple CNAs, and CNAs in 1p and 22q that harbor the SDHB and GSTT1 genes, respectively, correlated well with expression levels of these genes. mRNA expression levels of all SDH gene subunits were significantly lower (P≤0.041), whereas mRNA expression levels of VEGF (P=0.025), IGF1R (P=0.026), and ZNFs (P<0.05) were significantly higher in GISTs with wild-type/PDGFRA D842V mutations than GISTs with KIT mutations. qRT-PCR validation of the GSTT1 results in this cohort and 11 additional malignant GISTs showed a significant increase in the frequency of GSTT1 CN gain and increased mRNA expression of GSTT1 in wild-type/PDGFRA D842V GISTs than KIT-mutant GISTs (P=0.033).
|
24124608 |
2013 |
|
Gastrointestinal Stromal Tumors
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Wild-type GISTs were screened for coding-region alterations in SDH genes and for chromosomal aberrations using genome-wide single-nucleotide polymorphism and MIP arrays.
|
23109135 |
2013 |
|
Gastrointestinal Stromal Tumors
|
0.100 |
Biomarker
|
group |
BEFREE |
It is now recognized that all of the SDH genes are involved in the tumorigenesis of not only paragangliomas/pheochromocytomas, but also other tumor types, most notably gastrointestinal stromal tumors.
|
22692282 |
2012 |
|
Gastrointestinal Stromal Tumors
|
0.100 |
Biomarker
|
group |
BEFREE |
WT GISTs lacking demonstrable SDH genetic inactivation were evaluated for SDHB expression by immunohistochemistry and Western blotting and for complex II activity.
|
21173220 |
2011 |
|
Gastrointestinal Stromal Tumors
|
0.100 |
GeneticVariation
|
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 |