|
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 |
|
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 |
|
Atypical Teratoid Rhabdoid Tumor
|
0.800 |
Biomarker
|
disease |
BEFREE |
We present here a rare case of an adult (35 years) low-grade SMARCB1-deleted brain tumor with transition into prototypical AT/RT over 14 years.
|
28789476 |
2017 |
|
Atypical Teratoid Rhabdoid Tumor
|
0.800 |
Biomarker
|
disease |
BEFREE |
Targeting Polo-like kinase 1 in SMARCB1 deleted atypical teratoid rhabdoid tumor.
|
29228610 |
2017 |
|
Atypical Teratoid Rhabdoid Tumor
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Atypical teratoid/rhabdoid tumor (AT/RT) is a malignant tumor that is commonly associated with biallelic alterations of SMARCB1.
|
28731921 |
2017 |
|
Atypical Teratoid Rhabdoid Tumor
|
0.800 |
Biomarker
|
disease |
BEFREE |
We hypothesized that the inherent instability of the patient's ring chromosome could lead to mosaic monosomy chromosome 22, resulting in allelic inactivation of the tumor-suppressor gene SMARCB1 and AT/RT if a second-hit occurred.
|
27734605 |
2017 |
|
Atypical Teratoid Rhabdoid Tumor
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Abnormalities of SMARCB1 (INI1), which encodes a member of the SWI/SNF pathway, are found in neoplasms with rhabdoid morphology, such as malignant rhabdoid tumour of the kidney and atypical teratoid/rhabdoid tumour of the central nervous system.
|
27656868 |
2017 |
|
Atypical Teratoid Rhabdoid Tumor
|
0.800 |
Biomarker
|
disease |
BEFREE |
Patients with AT/RT and those with INI(+) AT/RT-like tumors showed a similar survival rate, and global array CGH analysis and INI1 gene sequencing showed no differential chromosomal aberration markers between INI1(-) AT/RT and INI(+) AT/RT-like cases.
|
26109171 |
2015 |
|
Atypical Teratoid Rhabdoid Tumor
|
0.800 |
Biomarker
|
disease |
BEFREE |
Whole Exome- and mRNA-Sequencing of an AT/RT Case Reveals Few Somatic Mutations and Several Deregulated Signalling Pathways in the Context of SMARCB1 Deficiency.
|
26998479 |
2015 |
|
Atypical Teratoid Rhabdoid Tumor
|
0.800 |
Biomarker
|
disease |
BEFREE |
Our discovery raises the question whether INI1 is implicated in all cases and whether its deletion is necessary in the pathogenesis of AT/RT, and also whether additional genetic pathways might exist.
|
25909878 |
2015 |
|
Atypical Teratoid Rhabdoid Tumor
|
0.800 |
Biomarker
|
disease |
BEFREE |
Aside from loss of function mutations in the SMARCB1 (BAF47/INI1/SNF5) chromatin remodeling gene, little is known of other molecular drivers of AT/RT.
|
25638158 |
2015 |
|
Atypical Teratoid Rhabdoid Tumor
|
0.800 |
Biomarker
|
disease |
BEFREE |
This unique case supports the notion that routine application of INI1 stains/in situ hybridization can capture AT/RT with unexpected patterns of differentiation.
|
24034858 |
2014 |
|
Atypical Teratoid Rhabdoid Tumor
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
AT/RTs are characterized by biallelic inactivating mutations of the gene SMARCB1 in 98% of patients; these mutations may serve as molecular markers for residual tumor cell detection in liquid biopsies.
|
25016934 |
2014 |