|
Paraganglioma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We report the multidisciplinary and shared decision-making approach that resulted in successful surgical removal of three paragangliomas in a SDHD mutation carrier.
|
31279790 |
2020 |
|
Pheochromocytoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
Variant type is associated with disease characteristics in SDHB, SDHC and SDHD-linked phaeochromocytoma-paraganglioma.
|
31492822 |
2020 |
|
Paraganglioma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
BAP1 nuclear expression was lost in 2/22 (9.1%) PGLs and in 12/34 (35.3%) PCCs, five of which harboring a germline mutation predisposing the development of such tumors (MENIN, MAX, SDHB, SDHD, and RET gene).
|
31734934 |
2019 |
|
Paraganglioma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Genetic studies have shown that familial paragangliomas are associated with germline mutation of succinate dehydrogenase subunits SDHD on 11q23.
|
30611952 |
2019 |
|
Paraganglioma
|
0.800 |
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 |
|
Paraganglioma
|
0.800 |
Biomarker
|
disease |
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 |
|
Paraganglioma
|
0.800 |
Biomarker
|
disease |
BEFREE |
Hereditary paraganglioma-pheochromocytoma (PGL/PCC) syndromes are characterized by paragangliomas and pheochromocytomas and have been associated with germline heterozygous mutations in MAX, SDHA, SDHAF2, SDHB, SDHC, SDHD, or TMEM127.
|
31705439 |
2019 |
|
Paraganglioma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We report a series of 10 patients carrying pathogenic variants in the SDHD gene from five tertiary referral centers for paraganglioma (PGL) in the Netherlands, who presented with a sympathetic PGL (sPGL), pheochromocytoma (PHEO), or metastases outside the head and neck region in the absence of excessive catecholamine production.
|
31194241 |
2019 |
|
Paraganglioma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Tumor multifocality with vagus nerve involvement as a phenotypic marker of SDHD mutation in patients with head and neck paragangliomas: A <sup>18</sup> F-FDOPA PET/CT study.
|
30584686 |
2019 |
|
Pheochromocytoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
Hereditary paraganglioma-pheochromocytoma (PGL/PCC) syndromes are characterized by paragangliomas and pheochromocytomas and have been associated with germline heterozygous mutations in MAX, SDHA, SDHAF2, SDHB, SDHC, SDHD, or TMEM127.
|
31705439 |
2019 |
|
Pheochromocytoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Higher risk of phaeochromocytoma/paraganglioma (Phaeo-Pgl) in SDHD than SDHB carriers: an Australian cohort study.
|
30957378 |
2019 |
|
Pheochromocytoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In family 3, two cases of SDHD gene mutation were found, both characterized by vagus PGL and pheochromocytoma.
|
30484866 |
2019 |
|
Pheochromocytoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We report a series of 10 patients carrying pathogenic variants in the SDHD gene from five tertiary referral centers for paraganglioma (PGL) in the Netherlands, who presented with a sympathetic PGL (sPGL), pheochromocytoma (PHEO), or metastases outside the head and neck region in the absence of excessive catecholamine production.
|
31194241 |
2019 |
|
Pheochromocytoma
|
0.800 |
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 |
|
Paraganglioma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Clinical progression and metachronous paragangliomas in a large cohort of SDHD germline variant carriers.
|
29777207 |
2018 |
|
Paraganglioma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mathematical modeling of disease dynamics in SDHB- and SDHD-related paraganglioma: Further step in understanding hereditary tumor differences and future therapeutic strategies.
|
30106970 |
2018 |
|
Paraganglioma
|
0.800 |
Biomarker
|
disease |
BEFREE |
Overall, 648 (71.2%) patients had small cell neuroendocrine carcinoma (SCNEC), 35 (3.8%) had large cell neuroendocrine carcinoma (LCNEC), 10 (1.1%) had carcinoid tumor (well-differentiated neuroendocrine tumor), 16 (1.8%) had paraganglioma/pheochromocytoma (PGL/PHEO), 619 (68.0%) had a poorly differentiated or undifferentiated histology grade, 214 (23.5%) presented with metastatic disease, 586 (64.4%) underwent transurethral ablation/destruction for bladder tumor, and 245 (26.9%) had partial/total cystectomy.
|
30349380 |
2018 |
|
Pheochromocytoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Germline SDHB and SDHD mutations in pheochromocytoma and paraganglioma patients.
|
30352407 |
2018 |
|
Pheochromocytoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Multifocal Paraganglioma and Pheochromocytoma Due to Truncated SDHD Mutation.
|
29545045 |
2018 |
|
Pheochromocytoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
We have retrospectively studied 31 genetically proven VHL patients with pheochromocytoma/paraganglioma (PCC/PGL) from families and have reviewed the World literature on PCC/PGL in patients with large VHL deletions.
|
29124493 |
2018 |
|
Paraganglioma
|
0.800 |
Biomarker
|
disease |
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></i>.
|
28720665 |
2017 |
|
Paraganglioma
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Ablation of SDH activity in SDHD-null cell lines or reduction of the SDHD or SDHB protein levels elicited by siRNA-induced gene silencing did not induce miR-210 whereas the presence of SDH mutations in PGLs and tumor-derived cell lines was associated with mild increase of miR-210 and the presence of a heterogeneous, HIF-1α-positive and HIF-1α-negative, tumor cell population.
|
28036268 |
2017 |
|
Paraganglioma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We analyzed 56 PGLs (21 with SDHD, 6 with SDHB mutations) in 27 patients (16 men, 11 women; mean age 37.7 years).
|
27967220 |
2017 |
|
Paraganglioma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
SDHB immunostaining detected 76.9% of SDH mutated PCCs/PGLs (3/3 SDHB-mutated samples; 1/1 SDHC-mutated sample; 6/9 SDHD-mutated samples).
|
28179334 |
2017 |
|
Paraganglioma
|
0.800 |
GeneticVariation
|
disease |
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 |