Primary malignant neoplasm
|
0.100 |
Biomarker
|
group |
BEFREE |
Finally, a truncating germline <i>IDH3B</i> mutation was found in a patient with a single paraganglioma showing an altered α-ketoglutarate/isocitrate ratio.<b>Conclusions:</b> This study further attests to the relevance of the Krebs cycle in the development of PCC and PGL, and points to a potential role of other metabolic enzymes involved in metabolite exchange between mitochondria and cytosol.<i>Clin Cancer Res; 23(20); 6315-24.©2017 AACR</i>.
|
28720665 |
2017 |
Primary malignant neoplasm
|
0.100 |
Biomarker
|
group |
BEFREE |
The study suggests that the underlying genetic status determines FDG uptake in PCC/PGL and not location, secretory status or malignancy.
|
28585398 |
2017 |
Primary malignant neoplasm
|
0.100 |
GeneticVariation
|
group |
BEFREE |
In multivariable analysis, younger age, larger tumor size, and PGL were associated with malignancy (p < 0.05).
|
28884434 |
2017 |
Primary malignant neoplasm
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Several mutations in nuclear genes encoding for mitochondrial components have been associated with an increased cancer risk or are even causative, e.g. succinate dehydrogenase (SDHB, SDHC and SDHD genes) and iso-citrate dehydrogenase (IDH1 and IDH2 genes).
|
26041263 |
2015 |
Primary malignant neoplasm
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Mutation detection rates were highest in those with a positive family history (62%), malignancy (53%), multiple tumours (33%) or PGL (44%).
|
23072324 |
2013 |
Primary malignant neoplasm
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The high frequency of founder mutations in SDHB suggests a higher prevalence of malignancy, and the SDHD mutation is usually associated with familial cases.
|
22566157 |
2012 |
Primary malignant neoplasm
|
0.100 |
Biomarker
|
group |
BEFREE |
To clarify the potential use of SDHB immunohistochemistry as a marker of malignancy in PCC/PGL and its association with classic hypoxia signalling we examined SDHB, hypoxia inducible factor-1α (Hif-1α) and its targets CA-9 and GLUT-1 expression on protein level using immunohistochemistry on a tissue micro array on a series of familial and sporadic tumours of 115 patients.
|
20702724 |
2010 |
Primary malignant neoplasm
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The SDHD p.Cys11X mutation is a founding mutation associated with a high penetrance for paraganglial tumors of the skull base, neck, thorax, and retroperitoneum in the first four decades of life and, rarely, with malignancy.
|
18826997 |
2008 |
Primary malignant neoplasm
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Mutations in the genes encoding the three other succinate dehydrogenase subunits (SDHB, SDHC and SDHD) have been identified in patients affected by familial or 'apparently sporadic' paraganglioma and/or pheochromocytoma, an autosomal inherited cancer-susceptibility syndrome.
|
15795514 |
2005 |
Primary malignant neoplasm
|
0.100 |
Biomarker
|
group |
BEFREE |
Phenotypes and rate of malignancy of SDHB and SDHD seem to be different, with a higher frequency of head-and-neck tumors in SDHD and indications of a higher risk of malignancy in SDHB mutations.
|
15883710 |
2005 |
Primary malignant neoplasm
|
0.100 |
GeneticVariation
|
group |
BEFREE |
In order to determine whether the SDHD function plays a wider role in human malignancies, we examined SDHD gene alterations in 52 colorectal and 59 gastric cancers and 7 cancer cell lines.
|
12883710 |
2004 |