|
Rhabdomyosarcoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Standard cytogenetic analyses and RT-PCR testing for the classic gene rearrangements seen in RMS [t(2;13)-PAX3/FKHR] and EWS ([t(11;22) & t(21;22)-EWS/FLI-1 & EWS/ERG), were used for characterization of the MEM, with gene expression microarray analyses on all tumor types.
|
17431644 |
2007 |
|
Rhabdomyosarcoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The authors applied reverse transcriptase-polymerase chain reaction analysis (RT-PCR) to analyze tumor samples from 14 children with rhabdomyosarcoma for the presence of the chimeric PAX3-FKHR transcript resulting from the translocation t(2;13)(q35,q14).
|
10718207 |
2000 |
|
Rhabdomyosarcoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Rhabdomyosarcomas (RMSs) are the most frequent soft tissue sarcoma in children and adolescents, defined by skeletal muscle differentiation and the status of FOXO1 fusions.
|
29898687 |
2018 |
|
Rhabdomyosarcoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In addition, one of the cases classified as PRMS showed evidence for the presence of a PAX3-FOXO1A fusion gene, which is characteristic of the alveolar subtype of RMS.
|
12550764 |
2003 |
|
Rhabdomyosarcoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Our FISH study highlighted the excellent performance of the presently reported commercial break-apart probe for the detection of FKHR gene rearrangements in RMS.
|
18094995 |
2008 |
|
Rhabdomyosarcoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The presence or absence of the FOXO1 translocation is one of the most important prognostic factors in RMS.
|
24326270 |
2014 |
|
Rhabdomyosarcoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The most common types of rhabdomyosarcoma (RMS) are alveolar RMS (ARMS), which are characterized by the specific translocation t(2;13)(q35;q14) or its rarer variant, t(1;13)(p36;q14), producing the fusion genes PAX3-FKHR and PAX7-FKHR, respectively, and embryonal RMS (ERMS), which is characterized by multiple numeric chromosome changes.
|
16337856 |
2005 |
|
Rhabdomyosarcoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The current molecular classification identifies 2 major subsets, those harboring the fused Pax3-Foxo1 transcription factor generating from a recurrent specific translocation (fusion-positive RMS), and those lacking this signature but harboring mutations in the RAS/PI3K/AKT signaling axis (fusion-negative RMS).
|
26209235 |
2016 |
|
Rhabdomyosarcoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Key findings from recent Children's Oncology Group (COG) clinical trials include safe reduction in therapy for low risk rhabdomyosarcoma (RMS), validation of FOXO1 fusion as a prognostic factor, a modest improvement in outcome for high-risk RMS, and a biologically designed non-cytotoxic therapy for pediatric desmoid tumor.
|
23255356 |
2013 |
|
Rhabdomyosarcoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Thus, we examined gene co-expression networks for rhabdomyosarcoma that were <i>FOXO1-PAX3</i> positive, <i>FOXO1-PAX7</i> positive, or fusion negative.
|
31480361 |
2019 |
|
Rhabdomyosarcoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We evaluated the clinical features of the common PAX3-FKHR and variant PAX7-FKHR gene fusions observed in rhabdomyosarcoma.
|
9164192 |
1997 |
|
Rhabdomyosarcoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The pathway from PAX3-FKHR translocation to the development of rhabdomyosarcoma tumors has been further elucidated.
|
19295433 |
2009 |
|
Rhabdomyosarcoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
OLIG2 is a novel immunohistochemical marker associated with the presence of PAX3/7-FOXO1 translocation in rhabdomyosarcomas.
|
31493794 |
2019 |
|
Rhabdomyosarcoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The availability of an ARMS cell line that harbors the t(1;13)(p36;q14) constitutes a useful tool for further understanding the role of the PAX7-FKHR fusion gene in RMS oncogenesis and may improve knowledge of the possible relation between PAX7-FKHR and MYCN amplification.
|
11063797 |
2000 |
|
Rhabdomyosarcoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Rhabdomyosarcoma (RMS) is the most common pediatric soft tissue sarcoma and includes a PAX3- or PAX7-FOXO1 fusion-positive subtype.
|
25810375 |
2015 |
|
Rhabdomyosarcoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
The rapid onset and increased penetrance of tumorigenesis in this model provide a powerful tool for interrogating aRMS biology and screening novel therapeutics.<b>Significance:</b> A novel mouse model sheds light on the critical role of Hippo/MST downregulation in PAX3-FOXO1-positive rhabdomyosarcoma tumorigenesis.<i></i>.
|
30093562 |
2018 |
|
Rhabdomyosarcoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
Together with the observed effects on the PAX3-FOXO1 fusion protein, these data suggest SAHA as a possible therapeutic agent for clinical testing in patients with fusion protein-positive RMS.
|
30307360 |
2019 |
|
Rhabdomyosarcoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
PAX3/7-FOXO1 fusion status in older rhabdomyosarcoma patient population by fluorescent in situ hybridization.
|
22089931 |
2012 |
|
Rhabdomyosarcoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
This is supported in rhabdomyosarcoma models by characterization of molecular and phenotypic effects of reducing and inhibiting PLK1, including changes to the PAX3-FOXO1 fusion protein.
|
31824851 |
2019 |
|
Rhabdomyosarcoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
A clinicopathologic study of head and neck rhabdomyosarcomas showing FOXO1 fusion-positive alveolar and MYOD1-mutant sclerosing are associated with unfavorable outcome.
|
27688110 |
2016 |
|
Rhabdomyosarcoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
CDK4 is preclinically validated as a therapeutic target in PAX3-FOXO1 fusion gene-positive rhabdomyosarcomas.
|
26199390 |
2015 |
|
Rhabdomyosarcoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
These results indicate that the involvement of PAX3 and PAX3-FKHR in rhabdomyosarcoma tumourigenesis may be through downregulation of PTEN tumour suppressor gene, affecting the PTEN/AKT survival pathway.
|
17350164 |
2007 |
|
Rhabdomyosarcoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
A combined clinical and molecular risk-stratification scheme that incorporated the PAX3/FOXO1 fusion gene status was derived from 287 patients with RMS and evaluated.
|
22454413 |
2012 |
|
Rhabdomyosarcoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
This study describes the in vitro and in vivo activity of PXD-101 (Belinostat), a novel hydroxamic acid-type pan-HDACs inhibitor characterized by a larger safety and efficacy, on myogenic-derived PAX3/FOXO1 fusion protein positive (RH30) or negative (RD) expressing rhabdomyosarcoma (RMS) cell lines.
|
31325529 |
2019 |
|
Rhabdomyosarcoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
We have determined the presence of the PAX3/7-FKHR fusion genes in 91 primary rhabdomyosarcoma tumours using a combination of classical cytogenetics, FISH and RT-PCR, with a view to determining the clinical characteristics of tumours with and without the characteristic translocations.
|
11556833 |
2001 |