Neurilemmoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Neurofibromatosis type 2 (NF2) is a schwannoma predisposition syndrome, alongside schwannomatosis related to germline LZTR1 and SMARCB1 pathogenic variants.
|
31425178 |
2019 |
Neurilemmoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Among those with peripheral tumors, the median tumor number was 4 in the LZTR1 group (median total body tumor volume 30 cc) and 10 in the SMARCB1 group (median volume 85cc), (P=.2915 for tumor number and P = .2289 for volume). mutation was associated with an increased prevalence of spinal schwannomas (100% vs 41%, P = .0197).
|
29384852 |
2018 |
Neurilemmoma
|
0.200 |
AlteredExpression
|
disease |
BEFREE |
Our data indicate that mutations affecting SMARCB1 play a role in the development or progression of a small subset of spinal schwannomas and that biallelic inactivation of SMARCB1 may cooperate with deficiency of NF2 function in schwannoma tumorigenesis according to the "four-hit/three events" mechanism of tumorigenesis that we demonstrated in schwannomatosis-associated schwannomas.
|
29230670 |
2018 |
Neurilemmoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
SMARCB1 mutations predispose to rhabdoid tumors and schwannomas but the mechanisms underlying the tumor type specificity are unknown.
|
28824165 |
2017 |
Neurilemmoma
|
0.200 |
AlteredExpression
|
disease |
BEFREE |
The present data suggests that (a) mosaic loss of immunohistochemical INI1/SMARCB1 expression, despite the interlesional variability, is a reliable marker of schwannomatosis regardless of the involved gene and it might help in the differential diagnosis of schwannomatosis vs. solitary schwannomas and (b) INI1/SMARCB1 expression is not useful in the differential with mosaic NF2, since NF2-associated peripheral schwannomas show the same immunohistochemical pattern.
|
28365909 |
2017 |
Neurilemmoma
|
0.200 |
Biomarker
|
disease |
BEFREE |
Our aim was to further define the clinicopathologic features and to evaluate SMARCB1/INI1 deficiency in a large cohort of 65 epithelioid schwannomas diagnosed between 2002 and 2015, which consisted of 32 men and 33 women with median age at diagnosis of 45 years (range, 13 to 75 y).
|
28368924 |
2017 |
Neurilemmoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
An unusual case of schwannomatosis with bilateral maxillary sinus schwannomas and a novel SMARCB1 gene mutation.
|
26431068 |
2016 |
Neurilemmoma
|
0.200 |
AlteredExpression
|
disease |
BEFREE |
Immunohistochemical staining with a SMARCB1 antibody revealed a mosaic SMARCB1 expression pattern in the three benign schwannomas, but absence of expression in the malignant tumor cells of the pRCC1.
|
26799435 |
2016 |
Neurilemmoma
|
0.200 |
AlteredExpression
|
disease |
BEFREE |
A few schwannomas and malignant peripheral nerve sheath tumors showed mosaic or complete loss of SMARCB1 expression.
|
26520417 |
2016 |
Neurilemmoma
|
0.200 |
Biomarker
|
disease |
BEFREE |
However, SMARCB1-associated schwannomas follow a four-hit, three-step model, in which both alleles of SMARCB1 and NF2 genes are inactivated in the tumor, with one of the steps being always the loss of a big part of chromosome 22 involving both loci.
|
25739810 |
2015 |
Neurilemmoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
This finding demonstrates that a SMARCB1 mutation may be the initial "hit" (constitutional) for a genetic disorder with subsequent risk of developing schwannomas and other malignancies, and raises the possibility that other patients with switch/sucrose non-fermenting (SWI/SNF) mutations may be at increased risk for tumors.
|
26364901 |
2015 |
Neurilemmoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Germline SMARCB1 mutations predispose in schwannomatosis patients to the development of multiple benign schwannomas and, in some cases, meningiomas.
|
24525513 |
2014 |
Neurilemmoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Our findings identify LZTR1 as a gene predisposing to an autosomal dominant inherited disorder of multiple schwannomas in ∼80% of 22q-related schwannomatosis cases lacking mutation in SMARCB1.
|
24362817 |
2014 |
Neurilemmoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Immunohistochemistry with a SMARCB1 antibody revealed a mosaic staining pattern in schwannomas of the patients with the c.30delC and c.34C>T mutations.
|
24740647 |
2014 |
Neurilemmoma
|
0.200 |
AlteredExpression
|
disease |
BEFREE |
These data, together with the expression of SMARCB1 protein in a proportion of cells from schwannomatosis-related schwannomas, suggest that these tumors develop through a mechanism that is distinct from that of rhabdoid tumors in which SMARCB1 protein is completely absent in tumor cells.
|
22949514 |
2012 |
Neurilemmoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Previously, we demonstrated that the SMARCB1 exon 2 missense mutation c.143 C > T segregates with the presence of meningiomas in five members of a large family with multiple meningiomas and schwannomas.
|
22038540 |
2012 |
Neurilemmoma
|
0.200 |
Biomarker
|
disease |
BEFREE |
SMARCB1 deficiency in tumors from the peripheral nervous system: a link between schwannomas and rhabdoid tumors?
|
22614000 |
2012 |
Neurilemmoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
By immunohistochemistry, both the epithelioid malignant peripheral nerve sheath tumor and the schwannomas showed a complete loss of the Smarcb1 protein.
|
22082606 |
2012 |
Neurilemmoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
These results suggest that patients with schwannomas have a significant probability of carrying a SMARCB1 mutation.
|
21255467 |
2011 |
Neurilemmoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We describe a patient with multiple schwannomas and mutation in the recently described INI1 gene, which also predisposes to the disease.
|
20854059 |
2011 |
Neurilemmoma
|
0.200 |
Biomarker
|
disease |
BEFREE |
Germline SMARCB1 mutations have recently been identified as a pathogenic cause of a subset of familial schwannomatosis cases, and SMARCB1 is a candidate gene for causation of both schwannomas and meningiomas.
|
20472658 |
2010 |
Neurilemmoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Familial occurrence of schwannomas and malignant rhabdoid tumour associated with a duplication in SMARCB1.
|
19124645 |
2009 |
Neurilemmoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
A novel germline SMARCB1 mutation was found in one patient; inactivating somatic mutations of NF2, associated with loss of heterozygosity (LOH) of 22q, were found in two schwannomas of this patient.
|
18072270 |
2008 |
Neurilemmoma
|
0.200 |
Biomarker
|
disease |
BEFREE |
These findings support the hypothesis that SMARCB1 is a tumor suppressor for schwannomas in the context of familial disease.
|
18647326 |
2008 |
Neurilemmoma
|
0.200 |
Biomarker
|
disease |
LHGDN |
These results confirm a role for INI1/SMARCB1 in multiple schwannoma syndromes and suggest that a different pathway of tumorigenesis occurs in solitary, sporadic tumors.
|
18422762 |
2008 |