|
Neoplasms
|
0.200 |
GeneticVariation
|
group |
BEFREE |
The present study shows that tumor multifocality within the vagus nerve is a phenotypic marker of SDHD mutation.
|
30584686 |
2019 |
|
Neoplasms
|
0.200 |
Biomarker
|
group |
BEFREE |
Herein, we rationally designed a "smart" Gd-based probe Glu-Cys(StBu)-Lys(DOTA-Gd)-CBT (1), which was subjected to γ-glutamyltranspeptidase (GGT) cleavage and an intracellular CBT-Cys condensation reaction to form Gd nanoparticles (i.e., 1-NPs) to enhance the T<sub>2</sub>-weighted MR contrast of tumor in vivo at 9.4 T. Living cell experiments indicated that the 1-treated HeLa cells had an r<sub>2</sub> value of 27.8 mM<sup>-1</sup> s<sup>-1</sup> and an r<sub>2</sub>/r<sub>1</sub> ratio of 10.6.
|
30856326 |
2019 |
|
Neoplasms
|
0.200 |
GeneticVariation
|
group |
BEFREE |
The genes for SDHA, SDHB, SDHC, and SDHD are located in the nuclear DNA, and mutations in these genes have initially been described in paragangliomas (PGL) and pheochromocytomas (PCC), which are relatively rare tumors derived from the autonomic nervous system and the adrenal medulla, respectively.
|
30421319 |
2019 |
|
Neoplasms
|
0.200 |
Biomarker
|
group |
BEFREE |
The improved insight in the pathophysiology of P-PGL and more accurate detection methods enable physicians to tailor the treatment plan to an individual based on the genetic profile and tumor behavior.
|
31307109 |
2019 |
|
Neoplasms
|
0.200 |
GeneticVariation
|
group |
BEFREE |
In addition to tumour type susceptibility differences for individual genes, we confirmed that the <i>SDHD:</i>p.Pro81Leu mutation has a distinct phenotype and identified increased age-related tumour risks with highly destabilising <i>SDHB</i> missense mutations.
|
29386252 |
2018 |
|
Neoplasms
|
0.200 |
Biomarker
|
group |
BEFREE |
In SDHB-related syndrome, PPGL maintenance seems to be reduced compared to SDHD (p = 0.04 vs 0.95) due to higher probability of tumor cell regression in SDHB vs SDHD (p = 0.87 vs 0.00).
|
30106970 |
2018 |
|
Neoplasms
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Hereditary paraganglioma (PGL)-pheochromocytoma (PCC) syndrome is a genetic disorder caused by a mutation of the tumor suppressor gene SDHD that results in a predisposition for head and neck PGLs and PCCs.
|
28902732 |
2017 |
|
Neoplasms
|
0.200 |
GeneticVariation
|
group |
BEFREE |
There was no significant difference in the volume growth rate according to tumor location or initial size (P>.7 and P = .07, respectively) or gene mutation type (SDHB vs. SDHD, P>.8).
|
27967220 |
2017 |
|
Neoplasms
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Loss of the entire maternal copy of chromosome 11 occurs frequently in SDHD-linked tumors, and has been suggested to be the basis for this typical inheritance pattern.Using fluorescent in situ hybridization, microsatellite marker and SNP array analysis, we demonstrate that loss of the entire copy of chromosome 11 is also frequent in SDHAF2-related PGLs, occurring in 89% of tumors.
|
28099933 |
2017 |
|
Neoplasms
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Limited information is available concerning PHEO/PGL penetrance among SDHB mutation carriers with regards to primary tumor location, specific mutation type, and gender.
|
28374168 |
2017 |
|
Neoplasms
|
0.200 |
Biomarker
|
group |
BEFREE |
In multivariable analysis, younger age, larger tumor size, and PGL were associated with malignancy (p < 0.05).
|
28884434 |
2017 |
|
Neoplasms
|
0.200 |
Biomarker
|
group |
BEFREE |
Nine out of 43 (21%) of patients diagnosed with PHEO/PGL had been diagnosed with ADHD prior to tumor identification.
|
27171833 |
2016 |
|
Neoplasms
|
0.200 |
Biomarker
|
group |
BEFREE |
Of the 60 SDHD tumours investigated, four tumours showing retention of chromosome 11 showed SLC22A18 and CDKN1C expression levels comparable to levels in tumours showing loss of chromosome 11, suggesting loss of protein expression despite chromosomal retention.Our data strongly suggest that SLC22A18 and/or CDKN1C are tumour modifier genes involved in the tumourigenesis of SDHD-linked paraganglioma.
|
27402879 |
2016 |
|
Neoplasms
|
0.200 |
GeneticVariation
|
group |
BEFREE |
In summary, our data suggest a novel mechanism whereby SDHD germline variants SDHD-G12S or SDHD-H50R induce thyroid tumorigenesis mediated by PTEN accumulation in the nucleus and may shed light on potential treatment with SRC inhibitors like bosutinib in PTEN-wild-type SDHD-variant/mutation positive CS/CSL patients and sporadic thyroid neoplasias.
|
25149476 |
2015 |
|
Neoplasms
|
0.200 |
Biomarker
|
group |
BEFREE |
These findings provide new insight into the biologic behavior of PGL and suggest that antiproliferative agents may be suboptimal for treatment of these tumors.
|
26359261 |
2015 |
|
Neoplasms
|
0.200 |
GeneticVariation
|
group |
BEFREE |
In contrast to the initial report and promoter mutations in the TERT gene, our analysis suggests that SDHD promoter mutations are a relatively rare event in melanoma (4% of tumors) of unclear clinical and prognostic relevance.
|
26327518 |
2015 |
|
Neoplasms
|
0.200 |
Biomarker
|
group |
BEFREE |
Twenty-six of 27 SDHx tumors (including the four weakly stained for SDHB) were positive for SDHD.
|
25405498 |
2015 |
|
Neoplasms
|
0.200 |
GeneticVariation
|
group |
BEFREE |
All patients with PGL/PCC should undergo genetic testing to identify potential hereditary tumour susceptibility.
|
24739310 |
2014 |
|
Neoplasms
|
0.200 |
Biomarker
|
group |
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 |
|
Neoplasms
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Microsatellite analysis in the tumor of patient 1 provided evidence for somatic recombination and loss of the paternal region of chromosome 11 including SDHD and the maternal chromosome including the centromere and the p arm.
|
25300370 |
2014 |
|
Neoplasms
|
0.200 |
Biomarker
|
group |
BEFREE |
Although most PHEO/PGLs are benign, factors such as genetic background, size, tumor location, and high methoxytyramine levels are associated with higher rates of metastatic disease.
|
24449662 |
2014 |
|
Neoplasms
|
0.200 |
Biomarker
|
group |
BEFREE |
Hereditary paraganglioma-pheochromocytoma syndromes (PGL/PCC) are rare tumors arising from neuroendocrine cells.
|
24375508 |
2014 |
|
Neoplasms
|
0.200 |
Biomarker
|
group |
BEFREE |
The analysis of the Hif1α pathway in SDHD-ESR tissues and in two newly derived cell lines after complete SdhD loss -a requirement for hereditary paraganglioma type-1 tumor formation in humans- partially recapitulated the "pseudo-hypoxic" response and rendered inconsistent results.
|
24465590 |
2014 |
|
Neoplasms
|
0.200 |
Biomarker
|
group |
BEFREE |
Recent examinations have shown significant involvement of RET, VHL, NF1, SDHB and SDHD as well as the newly discovered KIF1Bβ, TMEM127 and MAX genes in pathogenesis of these tumors.
|
23457139 |
2013 |
|
Neoplasms
|
0.200 |
GeneticVariation
|
group |
BEFREE |
PCC/PGL are still thought of as the "tumor of tens," with 10 % being hereditary; however, recent population based studies suggest that up to 32 % of patients have a germline mutation in one of the known common susceptibility genes (including NF1, VHL, RET, SDHB, SDHD, and SDHC).
|
23512077 |
2013 |