|
Atypical Teratoid Rhabdoid Tumor
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
The loss of INI1 protein activity was first demonstrated in aggressive pediatric tumors, including atypical teratoid/rhabdoid (AT/RT) tumor of the central nervous system and malignant rhabdoid tumor of the kidney.
|
30856630 |
2019 |
|
Atypical Teratoid Rhabdoid Tumor
|
0.800 |
Biomarker
|
disease |
BEFREE |
The prototypical SMARCB1-deficient tumor is the malignant rhabdoid tumor (MRT) which was first described in the kidney but also occurs in soft tissue, viscera, and the brain (where it is referred to as atypical teratoid rhabdoid tumor or AT/RT).
|
29280680 |
2019 |
|
Atypical Teratoid Rhabdoid Tumor
|
0.800 |
Biomarker
|
disease |
BEFREE |
Human orthologues of genes whose knockdown modified the phenotype in the Gal4-UAS fly model were further examined in ATRT samples and SMARCB1-deficient rhabdoid tumor cells.
|
30446899 |
2019 |
|
Atypical Teratoid Rhabdoid Tumor
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Since MRTK and atypical teratoid rhabdoid tumor (ATRT) of the brain share a common mutation in the gene (hSNF5/INI1), hence a diagnosis of MRTK with co-existent ATRT of the brain was established.
|
31632875 |
2019 |
|
Atypical Teratoid Rhabdoid Tumor
|
0.800 |
Biomarker
|
disease |
BEFREE |
Collectively, SMARCB1-deficient hPSCs offer the human models for AT/RT, which uncover the role of the activated ESC-like signature in the poor prognosis and unique histology of AT/RT.
|
30840885 |
2019 |
|
Atypical Teratoid Rhabdoid Tumor
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Loss of nuclear immunostaining for INI1 due to inactivation of the hSNF5/INI1 tumor suppressor gene is pathognomonic of ATRT.
|
30470167 |
2019 |
|
Atypical Teratoid Rhabdoid Tumor
|
0.800 |
Biomarker
|
disease |
BEFREE |
Staining with INI1 was negative in ATRT, RRT, and ERRT and positive in ES cases; CD99 was positive in ES cases and variable in ATRT cases.
|
28382842 |
2019 |
|
Atypical Teratoid Rhabdoid Tumor
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
WES revealed that the AT/RT genome is extremely stable except for the inactivation of SMARCB1.
|
31462227 |
2019 |
|
Schwannomatosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Genetic analysis of blood lymphocyte DNA identified a pathogenic variant in SMARCB1 confirming a diagnosis of schwannomatosis.
|
31240424 |
2019 |
|
Schwannomatosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
Effectively, LZTR1 is mapped on 22q11.2 and centromeric to SMARCB1 also implicated in the determinism of schwannomatosis and NF2, responsible for neurofibromatosis type 2.
|
31128261 |
2019 |
|
Schwannomatosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The structural and functional abnormalities of proteins caused by the mutations of the SMARCB1 gene may be the molecular basis for the pathogenesis of schwannomatosis in this family.
|
30576819 |
2019 |
|
Schwannomatosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Neurofibromatosis type 2 (NF2) is a schwannoma predisposition syndrome, alongside schwannomatosis related to germline LZTR1 and SMARCB1 pathogenic variants.
|
31425178 |
2019 |
|
Atypical Teratoid Rhabdoid Tumor
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In a family in which two carrier children had germline SMARCB1 mutations and atypical teratoid rhabdoid tumor, we report malignant progression of a nerve sheath tumor over a 7-year period in an affected adult family member.
|
29512865 |
2018 |
|
Atypical Teratoid Rhabdoid Tumor
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In addition, it did not have homozygous deletion of SMARCB1 gene, but it rather showed a frameshift mutation at exon 4 of SMARCB1 which had not been previously found in ATRT.
|
29110337 |
2018 |
|
Atypical Teratoid Rhabdoid Tumor
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Both components shared the same BRAF mutation, supporting their common origin, and hence the case was speculated as an AT/RT arising in the setting of a PXA by secondary genetic change of inactivation of INI1.
|
28502320 |
2018 |
|
Atypical Teratoid Rhabdoid Tumor
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
SMARCB1 inactivation is a well-established trigger event in atypical teratoid/rhabdoid tumor.
|
30169623 |
2018 |
|
Atypical Teratoid Rhabdoid Tumor
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Identification of loss of SMARCB1/INI1 expression in poorly differentiated (PD) chordoma in pediatric patients suggests that PD chordoma is an entity molecularly distinct from conventional chordoma or atypical teratoid/rhabdoid tumor, which is also characterized by loss of SMARCB1/INI1 expression by inactivating mutation of the SMARCB1/INI gene.
|
28812319 |
2018 |
|
Atypical Teratoid Rhabdoid Tumor
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
We report a case of AT/RT in a 3 month old boy with retained expression of INI1 by immunohistochemistry.
|
29271065 |
2018 |
|
Schwannomatosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Whereas NF2 is caused by mutations of the NF2 gene, schwannomatosis is associated with germline mutations of SMARCB1 or LZTR1.
|
30006736 |
2018 |
|
Schwannomatosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
SMARCB1 or LZTR1 variants were identified in 5/40 (12.5%) and 13/40 (∼32%) patients in the schwannomatosis cohort.
|
29409008 |
2018 |
|
Schwannomatosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
However, more recently, inherited SWI/SNF-deficiency has been linked to several benign syndromic tumors including a subset of familial schwannomatosis (linked to SMARCB1) and multiple meningiomas (linked to SMARCE1) as well as others.
|
29397238 |
2018 |
|
Schwannomatosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
The proportion of cases caused by <i>de novo</i> pathogenic variants is approximately 30% for <i>LZTR1-</i>related schwannomatosis and 10% for <i>SMARCB1-</i>related schwannomatosis.Penetrance is less than 100%.
|
31329710 |
2018 |
|
Schwannomatosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Constitutional mutations of SMARCB1 are responsible of schwannomatosis, an inherited tumor predisposition syndrome, characterized by the development of multiple schwannomas.
|
29230670 |
2018 |
|
Schwannomatosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
It is known that germline SMARCB1 mutations may cause rhabdoid tumor predisposition syndrome (RTPS1) or schwannomatosis.
|
29779243 |
2018 |
|
Schwannomatosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Schwannomatosis has been linked to germline mutations in the SMARCB1 and LZTR1 genes, and is frequently associated with pain.In a cohort study, we assessed the mutation status of 37 patients with clinically diagnosed schwannomatosis and compared to clinical data, whole body MRI (WBMRI), visual analog pain scale, and Short Form 36 (SF-36) bodily pain subscale.We identified a germline mutation in LZTR1 in 5 patients (13.5%) and SMARCB1 in 15 patients (40.5%), but found no germline mutation in 17 patients (45.9%).
|
29384852 |
2018 |