|
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 |
Biomarker
|
disease |
BEFREE |
TSC-2 gene encodes tuberin, a protein involved in the pathogenesis of kidney tumors, both angiomyolipomas and renal cell carcinomas.
|
19265534 |
2009 |
|
Angiomyolipoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
Tsc2 heterozygous mutant (Tsc2+/-) mice developed renal carcinomas with a complete penetrance, as seen in the Eker rat, but not the angiomyolipomas characteristic of human TSC, confirming the existence of a species-specific mechanism of tumorigenesis caused by tuberin deficiency.
|
10096549 |
1999 |
|
Angiomyolipoma
|
0.100 |
Biomarker
|
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 |
Biomarker
|
disease |
BEFREE |
NGS on an EAML patient with an extraordinary response to sirolimus uncovered TSC2 inactivation as the mechanism for the response.
|
29764404 |
2018 |
|
Angiomyolipoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
Urotensin-II-induced proliferation and migration were reproduced in TSC2-deficient human angiomyolipoma cells, but not in those stably expressing TSC2.
|
27458154 |
2016 |
|
Angiomyolipoma
|
0.100 |
AlteredExpression
|
disease |
LHGDN |
Tuberin (TSC2) was weak or absent in angiomyolipomas, but present in healthy kidney, whereas, phosphorylated p70 S6 kinase and p56 were present only in angiomyolipomas.
|
12711473 |
2003 |
|
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 |
In addition, the patient had no evidence of a renal angiomyolipoma at autopsy and therefore demonstrated for the first time that somatic TSC2 mutations cause LAM in patients without angiomyolipomas.
|
12411287 |
2003 |
|
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 |
PKD1 lays immediately adjacent to TSC2 and deletions involving both genes, the PKD1/TSC2 contiguous gene syndrome (CGS), are characterized by severe ADPKD, plus TSC. mTOR inhibitors have proven effective in reducing angiomyolipoma (AML) in TSC and total kidney volume in ADPKD but without a positive effect on renal function.
|
26077033 |
2015 |
|
Angiomyolipoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
This Review describes important advances in the TSC field and highlights several remaining critical knowledge gaps: the factors that promote aggressive behaviour by a subset of TSC-associated RCCs; the molecular mechanisms underlying early-onset cystogenesis in TSC2-PKD1 contiguous gene deletion syndrome; the effect of early, long-term mTORC1 inhibition on the development of TSC renal disease; and the identification of the cell or cells of origin of angiomyolipomas.
|
30232410 |
2018 |
|
Angiomyolipoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Our observations of frequent deletion of TSC2 and the mTOR signalling pathway provide evidence that the oncogenetic lineage of PEComa, as a distinct TSC2-linked neoplasm, is similar to that of angiomyolipoma.
|
18085521 |
2008 |
|
Angiomyolipoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The analysis of mutations and exon deletions at TSC2 gene in angiomyolipomas associated with tuberous sclerosis complex.
|
25281918 |
2014 |
|
Angiomyolipoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
Our data show for the first time that methylation of the TSC2 promoter might cause a complete loss of tuberin in TSC2 cells, and that the pathogenesis of angiomyolipomas might also originate from epigenetic defects in smooth muscle cells.
|
19443708 |
2009 |
|
Angiomyolipoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
TSC2-deficient human cells, derived from the angiomyolipoma of a LAM patient, were engineered to co-express both sodium-iodide symporter (NIS) and green fluorescent protein (GFP).
|
22719903 |
2012 |
|
Angiomyolipoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
These observations confirm the strong association between TSC2 mutation and angiomyolipoma burden seen in previous studies, and they indicate that everolimus response occurs regardless of mutation type or location or when no mutation in TSC1 or TSC2 has been identified.
|
25782670 |
2015 |
|
Angiomyolipoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
Using RNA-Seq, we identified (1) Insulin-like Growth Factor (IGF2) as one of the genes with the highest fold-change difference between human TSC2-null and TSC2-expressing angiomyolipoma cells from a patient with LAM, and (2) the mouse IGF2 homolog Igf2, as a top-ranking gene according to fold change between Tsc2-/- and Tsc2+/+ mouse embryo fibroblasts (MEFs).
|
29758070 |
2018 |