|
Neoplasm Metastasis
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
The PPGL incidence showed a tendency similar to that of its prevalence with the highest risk of metastasis posed by SDHB mutation (12%-41%) and the lowest risk by SDHD mutation (~4%).
|
31649053 |
2020 |
|
Neoplasm Metastasis
|
0.100 |
GeneticVariation
|
phenotype |
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 |
|
Neoplasm Metastasis
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
By contrast, the higher number of genetic abnormalities required for tumor initiation and maintenance in SDHB PPGL result in a lower penetrance of PGL, but when cells give rise to metastases they are assumed to be better adapted to sustain survival.
|
30106970 |
2018 |
|
Neoplasm Metastasis
|
0.100 |
Biomarker
|
phenotype |
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 |
|
Neoplasm Metastasis
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
Individuals with SDHD mutations occasionally present with metastatic disease, while conversely malignant paragangliomas are rarely observed in SDHC carriers.
|
26162468 |
2015 |
|
Neoplasm Metastasis
|
0.100 |
AlteredExpression
|
phenotype |
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 |
|
Neoplasm Metastasis
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
Succinate:fumarate ratios were higher in both SDHB-mutated and metastatic tumors than in those due to SDHD/C mutations or without metastases.
|
25014000 |
2014 |
|
Neoplasm Metastasis
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
His 36-year-old daughter had excision of recurrent malignant carotid body PGL and vertebral metastasis.
|
24375508 |
2014 |
|
Neoplasm Metastasis
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
Of the 32 patients who presented with metastatic disease and had their primary tumor in childhood or adolescence, sequence analysis of germline DNA showed SDHB mutations in 23 patients (71.9%), SDHD mutations in three patients (9.4%), VHL mutations in two patients (6.3%), and an absence of a known mutation in four patients (12.5%).
|
21969497 |
2011 |
|
Neoplasm Metastasis
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
We analyzed mutations in the all four SDH genes, SDHA through SDHD, in a Japanese family with cervical paraganglioma that include a father with bilateral tumors and his daughter with a malignant left carotid body tumor with nodal metastasis.
|
17041923 |
2006 |
|
Neoplasm Metastasis
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
Analysis of SDHD can also help to distinguish synchronous primary tumors from abdominal metastases.
|
15774781 |
2005 |