|
Atypical Teratoid Rhabdoid Tumor
|
0.800 |
Biomarker
|
disease |
BEFREE |
An atypical teratoid-rhabdoid tumor was ruled out due to the presence of the INI1-protein.
|
24131750 |
2014 |
|
Atypical Teratoid Rhabdoid Tumor
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Consistent loss of SMARCB1 nuclear expression has been considered as the hallmark abnormality for both subtypes, a feature shared with atypical teratoid/rhabdoid tumor of infancy (ATRT).
|
24585572 |
2014 |
|
Atypical Teratoid Rhabdoid Tumor
|
0.800 |
Biomarker
|
disease |
BEFREE |
Integrase Interactor-1 (INI-1) immunostaining and tumoural and leukocytes INI-1 gene sequencing confirmed the atypical teratoid/rhabdoid tumour nature of the cerebral tumour.
|
24284868 |
2014 |
|
Atypical Teratoid Rhabdoid Tumor
|
0.800 |
Biomarker
|
disease |
BEFREE |
The low overlap of dysregulated genes in AT/RTs and KRTs suggests that factors in addition to SMARCB1 loss play a role in determining subsequent gene expression.
|
23382118 |
2013 |
|
Atypical Teratoid Rhabdoid Tumor
|
0.800 |
Biomarker
|
disease |
BEFREE |
In conclusion, these data further suggest the absence of recurrent genomic alterations other than SMARCB1 in AT/RT.
|
23074045 |
2013 |
|
Atypical Teratoid Rhabdoid Tumor
|
0.800 |
Biomarker
|
disease |
CLINGEN |
Reversible disruption of mSWI/SNF (BAF) complexes by the SS18-SSX oncogenic fusion in synovial sarcoma.
|
23540691 |
2013 |
|
Atypical Teratoid Rhabdoid Tumor
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Atypical teratoid/rhabdoid tumor (AT/RT) is a rhabdoid tumor of the central nervous system comprising a mixture of small round cells and mesenchymal and/or epithelial elements, showing mutation of the SMARCB1 gene or SMARCA4 gene.
|
23880166 |
2013 |
|
Atypical Teratoid Rhabdoid Tumor
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A consistent fraction of cases carries de-novo SMARCB1/INI1 constitutional mutations in the setting of the "rhabdoid tumor predisposition syndrome" and the outcome is worst in infant syndromic ATRT patients.
|
23510391 |
2013 |
|
Atypical Teratoid Rhabdoid Tumor
|
0.800 |
Biomarker
|
disease |
BEFREE |
Amplification of the miRNA cluster at 19q13.42 has been identified previously as a genetic hallmark for ETMR, but an immunohistochemistry-based assay for clinical routine diagnostics [such as INI-1 for atypical teratoid rhabdoid tumor (AT/RT)] is still lacking.
|
23161096 |
2012 |
|
Atypical Teratoid Rhabdoid Tumor
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
As expected, INI1 expression was lacking in CHLA-266 (AT/RT).
|
22120608 |
2012 |
|
Atypical Teratoid Rhabdoid Tumor
|
0.800 |
Biomarker
|
disease |
BEFREE |
Direct DNA sequencing showed no INI1 sequence alternation in 3 of 4 AT/RTs.
|
22020042 |
2012 |
|
Atypical Teratoid Rhabdoid Tumor
|
0.800 |
Biomarker
|
disease |
BEFREE |
We present the case of a 6-year-old boy with a large right parietal mass whose tumor at initial presentation manifested 2 distinct components: GG with neoplastic neurons, low MIB-1 rate, and retention of INI-1 nuclear immunostaining (immunohistochemical) and, second, AT/RT with rhabdoid cells, polyphenotypic immunohistochemical expression, high MIB-1 rate, and loss of INI-1 nuclear expression.
|
22082607 |
2011 |
|
Atypical Teratoid Rhabdoid Tumor
|
0.800 |
Biomarker
|
disease |
BEFREE |
Our findings highlight the role of SMARCA4 in the pathogenesis of SMARCB1-positive AT/RT and the usefulness of antibodies directed against SMARCA4 in this diagnostic setting.
|
21566516 |
2011 |
|
Atypical Teratoid Rhabdoid Tumor
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
All 4 poorly differentiated chordomas and all AT/RTs lacked nuclear expression of SMARCB1/INI1, while the 10 typical chordomas maintained strong nuclear SMARCB1/INI1 immunoreactivity.
|
21057957 |
2010 |
|
Atypical Teratoid Rhabdoid Tumor
|
0.800 |
Biomarker
|
disease |
BEFREE |
We conclude that in CNS PNET: (i) routine application of INI1 immunohistochemistry helps rule out AT/RT, particularly in infants; (ii) MYC gene amplifications (especially MYCN) are common; (iii) involvement of CNS parenchyma by Ewing sarcoma/peripheral PNET is rare enough that EWS gene testing is not necessary unless significant dural involvement is present; and (iv) both anaplastic/large cell features and polysomies of 2 and 8 are associated with more aggressive clinical behavior.
|
19725831 |
2010 |
|
Atypical Teratoid Rhabdoid Tumor
|
0.800 |
Biomarker
|
disease |
BEFREE |
Atypical teratoid/rhabdoid tumors (AT/RTs) are highly aggressive pediatric brain tumors characterized by the presence of rhabdoid cells and negative immunostaining for INI1 (BAF47).
|
19220299 |
2010 |
|
Atypical Teratoid Rhabdoid Tumor
|
0.800 |
Biomarker
|
disease |
BEFREE |
The SMARCB1 gene status in 50 patients with atypical teratoid rhabdoid tumor and/or malignant rhabdoid tumor recruited to a German registry was prospectively analyzed with FISH and PCR.
|
19902524 |
2010 |
|
Atypical Teratoid Rhabdoid Tumor
|
0.800 |
Biomarker
|
disease |
CLINGEN |
The SMARCB1 gene status in 50 patients with atypical teratoid rhabdoid tumor and/or malignant rhabdoid tumor recruited to a German registry was prospectively analyzed with FISH and PCR.
|
19902524 |
2010 |
|
Atypical Teratoid Rhabdoid Tumor
|
0.800 |
Biomarker
|
disease |
BEFREE |
For example, INI-1 immunohistochemistry has assisted in identifying several previously unrecognized cases of rhabdoid cell-poor atypical teratoid rhabdoid tumor (ATRT).
|
20919607 |
2010 |
|
Atypical Teratoid Rhabdoid Tumor
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Subsequent loss of SMARCB1 protein expression comprises a relatively specific and sensitive diagnostic marker for AT/RT.
|
20882288 |
2010 |
|
Atypical Teratoid Rhabdoid Tumor
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Here we report on an infant diagnosed with Goldenhar syndrome (GS) phenotype who developed an atypical teratoid rhabdoid tumor (AT/RT) of the brain due to a distal deletion of the chromosome 22q11.2 region encompassing the INI1/SMARCB1 tumor suppressor.
|
19938088 |
2009 |
|
Atypical Teratoid Rhabdoid Tumor
|
0.800 |
Biomarker
|
disease |
CLINGEN |
Familial occurrence of schwannomas and malignant rhabdoid tumour associated with a duplication in SMARCB1.
|
19124645 |
2009 |
|
Atypical Teratoid Rhabdoid Tumor
|
0.800 |
Biomarker
|
disease |
BEFREE |
Results of staining with glial fibrillary acidic protein were not consistent with a glioma, and staining with INI-1 was inconsistent with atypical teratoid/rhabdoid tumor.
|
19231929 |
2009 |
|
Atypical Teratoid Rhabdoid Tumor
|
0.800 |
Biomarker
|
disease |
BEFREE |
This is the first case illustrating that improved survival of young patients with an AT/RT after aggressive treatment may be gained at the cost of an increased risk for the development of radiation-induced, non-INI1-related tumours.
|
18236049 |
2008 |
|
Atypical Teratoid Rhabdoid Tumor
|
0.800 |
Biomarker
|
disease |
MGD |
Tumor-specific cooperation of retinoblastoma protein family and Snf5 inactivation.
|
17409406 |
2007 |