|
Embryonal Rhabdomyosarcoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Classically, the alveolar subtype is characterized by a chromosomal translocation t(2;13)(q35;q14) or t(1;13)(p36;q14) fusing the PAX3 or PAX7 gene, respectively, to the FOXO1 gene, although fusion-negative cases of alveolar rhabdomyosarcoma (ARMS) occur; these share considerably more with the genomic profiles and biological behavior of embryonal rhabdomyosarcoma than with fusion-positive ARMS.
|
24614150 |
2014 |
|
Embryonal Rhabdomyosarcoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
Whereas ARMS tumors typically contain translocations generating PAX3-FOXO1 or PAX7-FOXO1 fusions that block terminal myogenic differentiation, no functionally comparable genetic event has been found in ERMS tumors.
|
24793135 |
2014 |
|
Embryonal Rhabdomyosarcoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
These results indicate that the PAX3-NCOA2 fusion gene has a dual role in the tumorigenesis of RMS: promotion of the proliferation and inhibition of the myogenic differentiation of RMS cells.
|
24213582 |
2014 |
|
Embryonal Rhabdomyosarcoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We found disagreement in only three samples: one ES/pPNET and one embryonal rhabdomyosarcoma harbor a PAX3-FOXO1 translocation (for ARMS), and one neuroepithelioma harboring a EWS-WT1 (for DSRCT).
|
24486246 |
2014 |
|
Embryonal Rhabdomyosarcoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In this study, cytogenetic and/or molecular characterization to include FISH, reverse transcription polymerase chain reaction (RT-PCR), and sequencing analyses of five rhabdomyosarcomas [four ARMS and one embryonal rhabdomyosarcoma (ERMS)] with novel, recurrent t(2;2)(p23;q35) or t(2;8)(q35;q13) revealed that these noncanonical translocations fuse PAX3 to NCOA1 or NCOA2, respectively.
|
19953635 |
2010 |
|
Embryonal Rhabdomyosarcoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In this study, we analyzed the complex chromosomal translocation in one case with embryonal rhabdomyosarcoma by means of spectral karyotyping (SKY) and identified a novel translocation involving chromosome band 2q35, which is the locus of PAX3 gene.
|
19215790 |
2009 |
|
Embryonal Rhabdomyosarcoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
Ectopic expression of the fusion gene characteristic of ARMS (paired box 3-forkhead homolog in rhabdomyosarcoma [PAX3-FKHR]) in ERMS cells was sufficient to convert them to an ARMS signaling phenotype and render ILK activity oncogenic.
|
19478459 |
2009 |
|
Embryonal Rhabdomyosarcoma
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Identification of PAX3-FKHR-regulated genes differentially expressed between alveolar and embryonal rhabdomyosarcoma: focus on MYCN as a biologically relevant target.
|
18335505 |
2008 |
|
Embryonal Rhabdomyosarcoma
|
0.100 |
Biomarker
|
disease |
LHGDN |
PAX3-FKHR fusion transcripts were positive in 3/7 and PAX 7-FKHR fusion transcripts were positive in 2/7 of ARMS patients, respectively, and were all negative in ERMS and Control tumors.
|
17285543 |
2007 |
|
Embryonal Rhabdomyosarcoma
|
0.100 |
PosttranslationalModification
|
disease |
BEFREE |
PAX3 methylation was analyzed in 15 embryonal rhabdomyosarcomas, 12 alveolar rhabdomyosarcomas, and in six normal skeletal muscle samples, using semi-quantitative PCR analysis of DNA digested with methyl-sensitive restriction enzymes.
|
15602708 |
2005 |
|
Embryonal Rhabdomyosarcoma
|
0.100 |
PosttranslationalModification
|
disease |
LHGDN |
PAX3 methylation was analyzed in 15 embryonal rhabdomyosarcomas, 12 alveolar rhabdomyosarcomas, and in six normal skeletal muscle samples, using semi-quantitative PCR analysis of DNA digested with methyl-sensitive restriction enzymes.
|
15602708 |
2005 |
|
Embryonal Rhabdomyosarcoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The majority, but not all, alveolar rhabdomyosarcoma carry the specific PAX3(7)/FKHR-translocation, whereas there is no consistent genetic abnormality recognized in embryonal rhabdomyosarcoma.
|
15313887 |
2004 |
|
Embryonal Rhabdomyosarcoma
|
0.100 |
AlteredExpression
|
disease |
LHGDN |
To explore molecular pathways altered by this oncoprotein, we generated an inducible form by fusing PAX3-FKHR to a modified estrogen receptor ligand-binding domain and expressed this construct in the RD embryonal rhabdomyosarcoma cell line.
|
15184910 |
2004 |
|
Embryonal Rhabdomyosarcoma
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Aberrant PAX3 and PAX7 expression. A link to the metastatic potential of embryonal rhabdomyosarcoma and cutaneous malignant melanoma?
|
12647804 |
2003 |
|
Embryonal Rhabdomyosarcoma
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
A sample from a patient with a diagnosis of embryonal rhabdomyosarcoma on presentation and expression of PAX3-FKHR fusion transcript yielded a small focus of alveolar rhabdomyosarcoma and was reclassified as alveolar rhabdomyosarcoma.
|
10718207 |
2000 |
|
Embryonal Rhabdomyosarcoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
With the use of Southern blot methodology, genomic rearrangements of PAX3 intron 7 were detected in 23 of 23 fusion-positive alveolar rhabdomyosarcomas and were not detected in 19 fusion-negative embryonal rhabdomyosarcomas.
|
9530337 |
1998 |