Neoplasms
|
0.100 |
AlteredExpression
|
group |
BEFREE |
In conclusion, we demonstrate that BRG1 immunohistochemistry is a useful second-line immunostain for the workup of undifferentiated, polyphenotypic or rhabdoid pediatric tumors that demonstrate retained expression of INI1.
|
31403913 |
2020 |
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
We propose the designation desmoplastic myxoid tumor (DMT), SMARCB1-mutant, for these tumors.
|
31732806 |
2020 |
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
SMARCB1 (INI-1)-deficient carcinomas and NUT carcinomas are aggressive neoplasms, often affecting the sinonasal region.
|
31729110 |
2020 |
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
Here, we report how loss of SMARCB1 affects the epigenome in these tumors.
|
30595504 |
2019 |
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
With the widespread adoption of SMARCB1 immunohistochemistry, an increasing number of SMARCB1-deficient tumors outside of the MRT-AT/RT spectrum have been described.
|
29280680 |
2019 |
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
These include gene fusions in vascular neoplasms (FOSB, CAMTA1 and TFE3), round cell sarcomas (BCOR, DUX4 and WT1), and fibroblastic/myofibroblastic tumors (STAT6, ALK and Pan-TRK); amplifications in well-differentiated and dedifferentiated liposarcomas (MDM2 and CDK4); and deletions in several aggressive neoplasms (SMARCB1 and SMARCA4).
|
30382607 |
2019 |
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
Furthermore, using human ATRT cell lines, patient-derived cell culture, ex vivo patient-derived tumor, and orthotopic xenograft models, we show that MYC inhibition is a molecular vulnerability in SMARCB1-deleted tumors and that such inhibition effectively suppresses BMP and pluripotency-associated genomic programs, attenuates tumor cell self-renewal, promotes senescence, and inhibits ATRT tumor growth in vivo.
|
30230537 |
2019 |
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
This unique entity is a candidate to be recognized and distinguished from other types of chordoma or SMARCB1-deficient tumors which are clinically important differential diagnoses that represent a challenging task for the pathologists.
|
31243811 |
2019 |
Neoplasms
|
0.100 |
AlteredExpression
|
group |
BEFREE |
Deficient INI1 protein expression by immunohistochemistry and homozygous loss of the SMARCB1 gene by chromosomal microarray analysis ultimately justified this tumor's designation as ES.
|
27442626 |
2019 |
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
The concept that SNF5 is a coactivator for MYC, however, is at odds with its role as a tumor-suppressor, and with observations that loss of SNF5 leads to activation of MYC target genes.
|
31043611 |
2019 |
Neoplasms
|
0.100 |
AlteredExpression
|
group |
BEFREE |
Both these tumors have alterations in the tumor suppressor gene SMARCB1 resulting in loss of expression of the INI-1 protein.
|
28777153 |
2019 |
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Tumors in the 3 subsets with different FISH findings largely exhibited similar clinicopathologic features, however, homozygous SMARCB1 deletion was found to show a significant association with the solid growth pattern, whereas tumors dominated by reticular/cribriform growth were enriched for SMARCB1 translocation.
|
30980040 |
2019 |
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
Tumor suppressor SMARCB1 suppresses super-enhancers to govern hESC lineage determination.
|
31033435 |
2019 |
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
The spectrum of INI1-negative tumors includes a wide variety of neoplasms that occur over a wide age range, are variably aggressive, and have a variable rhabdoid component on histopathologic evaluation.
|
30856630 |
2019 |
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
SMARCB1 immunohistochemistry status and SMARCB1 alterations were concordant in 20/21 of the sequenced tumors.
|
30864974 |
2019 |
Neoplasms
|
0.100 |
AlteredExpression
|
group |
BEFREE |
Loss of nuclear immunostaining for INI1 due to inactivation of the hSNF5/INI1 tumor suppressor gene is pathognomonic of ATRT.
|
30470167 |
2019 |
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Accumulation of mutations in tumor suppressor genes such as TP53 and INI1 seemed to occur during ECS development.
|
31444625 |
2019 |
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
Abnormalities of tumor suppressor gene SMARCB1 have been found in RMC.
|
30656488 |
2019 |
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
Notably, activation of an embryonic stem cell (ESC)-like signature confers a rhabdoid histology in SMARCB1-deficient NPLC-derived tumors and causes a poor prognosis.
|
30840885 |
2019 |
Neoplasms
|
0.100 |
AlteredExpression
|
group |
BEFREE |
All tumors were associated with normal or low serum alpha fetoprotein levels, and showed an absence of immunohistochemical staining of hepatocellular markers (Hep-par1, Arginase) and loss of INI1 staining.
|
31835848 |
2019 |
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
Definite histological diagnosis of the extradural tumor was difficult; however, a metastatic lesion in the rib showed a proliferation of INI1/SMARCB1-negative spindle and rhabdoid cells, indicating the tumor was MRT.
|
29086074 |
2018 |
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
Collectively, these findings highlight tumor suppressor role of SMARCB1 and illustrate SWI/SNF<sup>Δ</sup> function in maintaining an oncogenic gene expression program in AML.<b>Implications:</b> Loss of SMARCB1 in AML associates with SWI/SNF<sup>Δ</sup> nucleation, which in turn promotes Rac GTPase <i>GEF</i> expression, Rac activation, migration, and survival of AML cells, highlighting SWI/SNF<sup>Δ</sup> downstream signaling as important molecular regulator in AML.<i></i>.
|
29483235 |
2018 |
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Pathological examination demonstrated a dimorphic tumor containing a spindle-pleomorphic component reminiscent of PXA and a rhabdoid component with INI1 loss showing features of AT/RT.
|
28502320 |
2018 |
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
The human tumor suppressor SMARCB1/INI1/SNF5/BAF47 (SNF5) is a core subunit of the multi-subunit ATP-dependent chromatin remodeling complex SWI/SNF, also known as Brahma/Brahma-related gene 1 (BRM/BRG1)-associated factor (BAF).
|
30178299 |
2018 |
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The most commonly mutated oncogenes included KRAS (19%), PIK3CA (16%), EGFR (5%), BRAF (3%) and KIT (3%); while the most frequently mutated tumor suppressor genes included TP53 (40%), SMARCB1 (12%), APC (8%), PTEN (6%) and SMAD4 (5%).
|
28994108 |
2018 |