|
Angiomyolipoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
Notably initial chest and abdominal CT did not reveal characteristic pulmonary cysts or the presence of angiomyolipomas suggestive of LAM.
|
31300601 |
2019 |
|
Angiomyolipoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
NMI individuals showed more frequent bilateral and larger renal angiomyolipomas (p = 0.001; p = 0.003) and pulmonary involvement (trend) than patients with TSC1 pathogenic variants.
|
29432982 |
2018 |
|
Angiomyolipoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
In general, TSC2 disease was more severe than TSC1, with more subependymal giant cell astrocytomas and angiomyolipomas, higher incidence of pharmacoresistant epileptic seizures, and more severe neuropsychiatric disorders.
|
29196670 |
2017 |
|
Angiomyolipoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
Loss of Tsc1 in fibroblasts in mice does not lead to a model of angiomyolipoma or lymphangioleiomyomatosis.
|
27907099 |
2016 |
|
Angiomyolipoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Our results indicate that TSC2 and less commonly TSC1 alterations are the primary essential driver event in angiomyolipoma/LAM, whereas other somatic mutations are rare and likely do not contribute to tumor development.
|
27494029 |
2016 |
|
Angiomyolipoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The exosome-mediated mechanisms may also operate in the cells of angiomyolipoma (AML), which develops as a result of mutations in TSC1/TSC2 genes in TSC patients, because we observed the reactivation of mammalian target of rapamycin and Notch pathways, driven by the delivery of Rheb and Notch1 esRNA, in AML cells depleted of Rheb that were treated with the exosomes purified from AML cells with the constitutively high Rheb levels.
|
26434588 |
2016 |
|
Angiomyolipoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
TSC2 mutations were predominant among patients in both trials and were present in nearly all subjects with angiomyolipoma in whom a mutation was identified (97%), whereas TSC1 mutations were rare in those subjects (3%).
|
25782670 |
2015 |
|
Angiomyolipoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in tuberous sclerosis (TSC) genes cause the genetic disorder TSC, as well as other neoplasms, including lymphangioleiomyomatosis (LAM) and angiomyolipomas (AMLs).
|
25476905 |
2014 |
|
Angiomyolipoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
This model may prove useful for studying the biology and effect of drugs on angiomyolipoma and diseases related to TSC.
|
18988705 |
2009 |
|
Angiomyolipoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
Phase I/II clinical trials of the mTORC1 inhibitor rapamycin have demonstrated reduction in size of tuberous-sclerosis- and LAM-associated renal tumours (angiomyolipomas) and some evidence for reversible improvement in lung function in patients with LAM.
|
19143643 |
2009 |
|
Angiomyolipoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Two of the most unusual phenotypes in TSC are the apparent metastasis of benign cells carrying TSC1 and TSC2 mutations, resulting in pulmonary lymphangiomyomatosis, and the ability of cells with TSC1 or TSC2 mutations to differentiate into the separate components of renal angiomyolipomas (vessels, smooth muscle and fat).
|
16288294 |
2005 |
|
Angiomyolipoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The most common renal lesions of tuberous sclerosis complex, an autosomal-dominant syndrome resulting from losses of TSC1 (9q34) or TSC2 (16p13.3), are renal cysts and angiomyolipomas.Epithelial neoplasms are less common.
|
11812941 |
2002 |
|
Angiomyolipoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
We report here the expression of hamartin, the product of the TSC1 gene, in normal human tissues and in renal angiomyolipomas from TSC1- and TSC2-linked patients.
|
10349994 |
1999 |
|
Angiomyolipoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Three types of tumors occur in TSC kidneys: (1) angiomyolipomas, which are benign tumors composed of smooth muscle, fat, and vessels; (2) epithelial cysts; and (3) malignant tumors.
|
9874854 |
1998 |