Meningioma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Additionally, KLF4-mutant meningiomas were associated with larger peritumoral brain edema, while SMARCB1 cases exhibited elevated Ki-67 index.
|
31653806 |
2019 |
Meningioma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Genetic alterations in grade I meningiomas include frequent deletions of chromosomal locus 22q12 and NF2 gene mutations and uncommon somatic SMARCB1 and SMARCE1gene mutations; In grade II meningiomas, chromosomal losses occur on 1p, 22q, 14q, 18q, 10, and 6q, and gains on 20q, 12q, 15q, 1q, 9q, and 17q; In grade III meningiomas, losses have been recognized on 6q, 10, and 14q and alterations of PTEN, CDKN2A and CDKN2B genes.
|
28527972 |
2017 |
Meningioma
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
SMARCB1 expression is lost or downregulated in multiple human tumors, including epithelioid sarcoma, meningioma and rhabdoid tumors of the brain, soft tissue and kidney.
|
25754356 |
2015 |
Meningioma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Additionally, an array of unique mutations was detected in each tumor, including in SMARCB1 in two of the samples, a gene whose alteration leads to the development of meningioma.
|
25981829 |
2015 |
Meningioma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Germline SMARCB1 mutations predispose in schwannomatosis patients to the development of multiple benign schwannomas and, in some cases, meningiomas.
|
24525513 |
2014 |
Meningioma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The MRI scans revealed one or more falx meningiomas in seven of 11 (64%) newly identified SMARCB1 mutation carriers.
|
22038540 |
2012 |
Meningioma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
RNA-based analysis of two SMARCB1 mutations associated with familial schwannomatosis with meningiomas.
|
22752724 |
2012 |
Meningioma
|
0.500 |
GermlineCausalMutation
|
disease |
ORPHANET |
It is concluded that, analogous to the genetic events in a subset of schwannomatosis associated schwannomas, a four-hit mechanism of tumour suppressor gene inactivation, involving SMARCB1 and NF2, might be operative in familial multiple meningiomas associated meningiomas.
|
20930055 |
2011 |
Meningioma
|
0.500 |
Biomarker
|
disease |
BEFREE |
It is concluded that, analogous to the genetic events in a subset of schwannomatosis associated schwannomas, a four-hit mechanism of tumour suppressor gene inactivation, involving SMARCB1 and NF2, might be operative in familial multiple meningiomas associated meningiomas.
|
20930055 |
2011 |
Meningioma
|
0.500 |
Biomarker
|
disease |
BEFREE |
We conclude that while meningiomas may be associated with the schwannomatosis phenotype, SMARCB1 is not a major contributor to multiple meningioma disease.
|
20472658 |
2010 |
Meningioma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We present genetic evidence that the meningioma is not a recurrence or metastasis of the AT/RT and not due to the INI1 mutation, but is a radiation-induced tumour.
|
18236049 |
2008 |
Meningioma
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
INI1 expression is retained in composite rhabdoid tumors, including rhabdoid meningiomas.
|
15761491 |
2005 |
Meningioma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
INI1 mutation is a rare event in the molecular pathology of meningiomas.
|
14514925 |
2003 |
Meningioma
|
0.500 |
Biomarker
|
disease |
BEFREE |
Our data indicate that the INI1 is a second tumour suppressor gene on chromosome 22 that may be important for the genesis of meningiomas.
|
11161377 |
2001 |
Meningioma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We therefore directly sequenced seven SMARCB1 exons (90% of the open reading frame) in search for mutations in 41 meningiomas and 23 schwannomas.
|
10208879 |
1999 |
Meningioma
|
0.500 |
Biomarker
|
disease |
HPO |
|
|
|