Soft Tissues: Alveolar rhabdomyosarcoma with t(2;13)(q35;q14) PAX3/FOXO1
2010-07-01 Frederic G Barr Affiliation1.Department of Pathology, Laboratory Medicine, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA
Clinics and Pathology
Phenotype stem cell origin
Alveolar rhabdomyosarcoma (ARMS).
Epidemiology
Occurs in ~60% of ARMS cases; patients tend to be older children (and young adults) compared to those with t(1;13)-positive ARMS tumors.
Clinics
Tumors tend to show higher invasiveness compared to those with t(1;13)-positive ARMS tumors. In metastatic cases. there is a high incidence of bone marrow involvement.
Prognosis
Outcome is worse than in rhabdomyosarcoma cases without a translocation (including embryonal rhabdomyosarcoma and translocation-negative ARMS). In one study, patients with localized t(2;13) and t(1;13)-positive ARMS had comparable outcomes whereas a recent study with small numbers suggested that localized t(1;13) tumors had a better outcome than those with localized t(2;13) tumors. Among patients presenting with metastatic disease, those with t(2;13)-positive tumors had a significantly poorer outcome than those with t(1;13)-positive tumors. Note: these studies are based on molecular detection of the translocations.
Cytogenetics
Diagram of t(2;13)(q35;q14) chromosomal translocation.
Cytogenetics morphological
Reciprocal balanced translocations are generally present in cases with the associated molecular fusion.
Cytogenetics molecular
The product of the 2;13 translocation is amplified in ~10% of t(2;13)-positive cases.
Additional anomalies
Amplification events involving 2p24 and 12q14 (as determined by DNA-based array studies).
Genes Involved and Proteins
Gene name
PAX3 (paired box gene 3 (Waardenburg syndrome 1))
Location
2q36.1
Protein description
Transcription factor - paired box (PAX) family.
Gene name
FOXO1 (Forkhead box O1)
Location
13q14.11
Protein description
Transcription factor - forkhead box (FOX) family.
Result of the chromosomal anomaly
Note
A variant PAX3-FOXO4 fusion (also known an PAX3-AFX1) associated with a t(X;13)(q13:q35) has been identified in one ARMS case.
Generation of chimeric genes by the 2;13 translocation in ARMS. The exons of the wild-type and fusion genes are shown as boxes above each map and the translocation breakpoint distributions are shown as line segments below the map of the wild-type genes.
Description
The 2;13 translocation breaks within intron 7 of the PAX3 gene and intron 1 of the FOXO1 gene on chromosome 13 to generate PAX3-FOXO1 fusion gene as well as a reciprocal FOXO1-PAX3 fusion gene. In ~10% of PAX3-FOXO1-positive ARMS tumors, the FOXO1-PAX3 gene is not detectable.
Transcript
The PAX3-FOXO1 fusion transcript consists of the first 7 exons of PAX3 fused to FOXO1 exons 2 and 3, and the FOXO1-PAX3 fusion transcript consists of the first exon of FOXO1 fused to the last two exons of PAX3. In ~35% of PAX3-FOXO1-positive ARMS tumors (with evidence of PAX3-FOXO1 transcript), the FOXO1-PAX3 transcript is not detectable. There is evidence that the PAX3-FOXO1 fusion transcript is upregulated relative to the wild-type PAX3 transcript by a transcriptional mechanism.
Comparison of wild-type and fusion products associated with the 2;13 translocation in ARMS. The conserved domains are indicated as open boxes, and functional domains are shown as solid bars. The vertical dash line indicates the translocation fusion point. Abbreviations: PB, paired box; HD, homeodomain; FD, forkhead domain.
Description
The PAX3-FOXO1 fusion gene has a 2508 nt open reading frame encoding an 836 amino acid fusion protein. This fusion protein is a transcription factor with a PAX3 DNA binding domain and FOXO1 transactivation domain.
Expression localisation
Nuclear.
Oncogenesis
Transcription dysregulation. At the cellular level there is evidence of alterations in control of growth, survival, differentiation, and motility. In conjunction with other genetic changes, recipient cells show transformation in culture and tumorigenesis in injected mice. A conditional knock-in mouse model of the PAX3-FKHR fusion has been generated and successfully produces ARMS tumors.
Highly cited references
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37345159 | 2023 | Genomic and Epigenetic Changes Drive Aberrant Skeletal Muscle Differentiation in Rhabdomyosarcoma. | 214 |
| 23432728 | 2013 | A call to ARMS: targeting the PAX3-FOXO1 gene in alveolar rhabdomyosarcoma. | 196 |
| 30373318 | 2018 | Therapeutic Approaches Targeting PAX3-FOXO1 and Its Regulatory and Transcriptional Pathways in Rhabdomyosarcoma. | 175 |
| 26209235 | 2016 | Uncovering metabolism in rhabdomyosarcoma. | 145 |
| 35857643 | 2022 | Targeting KDM4 for treating PAX3-FOXO1-driven alveolar rhabdomyosarcoma. | 110 |
| 37968277 | 2023 | PAX3-FOXO1 dictates myogenic reprogramming and rhabdomyosarcoma identity in endothelial progenitors. | 104 |
| 39107280 | 2024 | HDAC3 genetic and pharmacologic inhibition radiosensitizes fusion positive rhabdomyosarcoma by promoting DNA double-strand breaks. | 98 |
| 33182556 | 2020 | FAK Signaling in Rhabdomyosarcoma. | 97 |
| 34836971 | 2021 | BAF complexes drive proliferation and block myogenic differentiation in fusion-positive rhabdomyosarcoma. | 93 |
| 35879366 | 2022 | Therapeutic targeting of ATR in alveolar rhabdomyosarcoma. | 86 |
| 34639012 | 2021 | MS-275 (Entinostat) Promotes Radio-Sensitivity in PAX3-FOXO1 Rhabdomyosarcoma Cells. | 85 |
| 28615069 | 2017 | Regulatory landscape fusion in rhabdomyosarcoma through interactions between the PAX3 promoter and FOXO1 regulatory elements. | 85 |
| 37639593 | 2023 | Myo-differentiation reporter screen reveals NF-Y as an activator of PAX3-FOXO1 in rhabdomyosarcoma. | 83 |
| 38992040 | 2024 | The transcriptional co-repressor Runx1t1 is essential for MYCN-driven neuroblastoma tumorigenesis. | 82 |
| 33490904 | 2021 | 17-DMAG dually inhibits Hsp90 and histone lysine demethylases in alveolar rhabdomyosarcoma. | 81 |
| 33627785 | 2021 | FOXF1 is required for the oncogenic properties of PAX3-FOXO1 in rhabdomyosarcoma. | 80 |
| 34720529 | 2021 | Transcription factors specificity protein and nuclear receptor 4A1 in pancreatic cancer. | 80 |
| 29367756 | 2018 | PAX3-FOXO1 drives miR-486-5p and represses miR-221 contributing to pathogenesis of alveolar rhabdomyosarcoma. | 78 |
| 24334454 | 2014 | Alveolar rhabdomyosarcoma-associated PAX3-FOXO1 promotes tumorigenesis via Hippo pathway suppression. | 73 |
| 27760049 | 2016 | Helicase CHD4 is an epigenetic coregulator of PAX3-FOXO1 in alveolar rhabdomyosarcoma. | 73 |
| 33117671 | 2020 | Effects of the Oncoprotein PAX3-FOXO1 on Modulation of Exosomes Function and Protein Content: Implications on Oxidative Stress Protection and Enhanced Plasticity. | 70 |
| 38474036 | 2024 | Transforming Growth Factor Beta and Alveolar Rhabdomyosarcoma: A Challenge of Tumor Differentiation and Chemotherapy Response. | 68 |
| 34573355 | 2021 | High Frequency of Tumor Propagating Cells in Fusion-Positive Rhabdomyosarcoma. | 61 |
| 38402212 | 2024 | KDM3B inhibitors disrupt the oncogenic activity of PAX3-FOXO1 in fusion-positive rhabdomyosarcoma. | 60 |
| 28446439 | 2017 | PAX3-FOXO1 Establishes Myogenic Super Enhancers and Confers BET Bromodomain Vulnerability. | 60 |
| 25030697 | 2014 | Lineage of origin in rhabdomyosarcoma informs pharmacological response. | 60 |
| 36395771 | 2022 | PAX3-FOXO1 coordinates enhancer architecture, eRNA transcription, and RNA polymerase pause release at select gene targets. | 59 |
| 18457914 | 2008 | PAX3-FOXO1 fusion gene in rhabdomyosarcoma. | 59 |
| 39812007 | 2025 | DNA methylation patterns are influenced by Pax3::Foxo1 expression and developmental lineage in rhabdomyosarcoma tumours forming in genetically engineered mouse models. | 58 |
| 26071485 | 2015 | Secreted Frizzled-Related Protein 3 (SFRP3) Is Required for Tumorigenesis of PAX3-FOXO1-Positive Alveolar Rhabdomyosarcoma. | 57 |
| 29869612 | 2018 | PAX3-FOXO1 transgenic zebrafish models identify HES3 as a mediator of rhabdomyosarcoma tumorigenesis. | 56 |
| 31824851 | 2019 | A Perspective on Polo-Like Kinase-1 Inhibition for the Treatment of Rhabdomyosarcomas. | 55 |
| 17986608 | 2007 | PAX3-FOXO1 controls expression of the p57Kip2 cell-cycle regulator through degradation of EGR1. | 54 |
| 31578374 | 2019 | The PAX3-FOXO1 oncogene alters exosome miRNA content and leads to paracrine effects mediated by exosomal miR-486. | 54 |
| 27454080 | 2016 | Comparative transcriptomic analysis reveals the oncogenic fusion protein PAX3-FOXO1 globally alters mRNA and miRNA to enhance myoblast invasion. | 54 |
| 33182548 | 2020 | Synthetic MIR143-3p Suppresses Cell Growth in Rhabdomyosarcoma Cells by Interrupting RAS Pathways Including PAX3-FOXO1. | 54 |
| 25806826 | 2015 | The PAX3-FOXO1 fusion protein present in rhabdomyosarcoma interferes with normal FOXO activity and the TGF-β pathway. | 53 |
| 32697014 | 2020 | KDM3A/Ets1 epigenetic axis contributes to PAX3/FOXO1-driven and independent disease-promoting gene expression in fusion-positive Rhabdomyosarcoma. | 53 |
| 38102136 | 2023 | PAX3-FOXO1 uses its activation domain to recruit CBP/P300 and shape RNA Pol2 cluster distribution. | 52 |
| 37732905 | 2023 | Piperacetazine Directly Binds to the PAX3::FOXO1 Fusion Protein and Inhibits Its Transcriptional Activity. | 52 |
| 34187933 | 2021 | Negative correlation of single-cell PAX3:FOXO1 expression with tumorigenicity in rhabdomyosarcoma. | 51 |
| 28058850 | 2017 | Molecular diagnostics in the management of rhabdomyosarcoma. | 51 |
| 33338875 | 2021 | Mutant myogenin promoter-controlled oncolytic adenovirus selectively kills PAX3-FOXO1-positive rhabdomyosarcoma cells. | 51 |
| 33589519 | 2021 | A Fusion Transcription Factor-Driven Cancer Progresses to a Fusion-Independent Relapse via Constitutive Activation of a Downstream Transcriptional Target. | 51 |
| 25659124 | 2015 | Modeling of the human alveolar rhabdomyosarcoma Pax3-Foxo1 chromosome translocation in mouse myoblasts using CRISPR-Cas9 nuclease. | 50 |
| 36097178 | 2022 | Strategies to inhibit FGFR4 V550L-driven rhabdomyosarcoma. | 50 |
| 19904978 | 2009 | Phosphorylation of serine 205 by the protein kinase CK2 persists on Pax3-FOXO1, but not Pax3, throughout early myogenic differentiation. | 50 |
| 35604932 | 2022 | Divergent transcriptional and transforming properties of PAX3-FOXO1 and PAX7-FOXO1 paralogs. | 49 |
| 30190424 | 2018 | Interleukin-24 (IL24) Is Suppressed by PAX3-FOXO1 and Is a Novel Therapy for Rhabdomyosarcoma. | 48 |
| 25821947 | 2015 | Inhibiting phosphorylation of the oncogenic PAX3-FOXO1 reduces alveolar rhabdomyosarcoma phenotypes identifying novel therapy options. | 47 |
| 33509264 | 2021 | ACTA1 is inhibited by PAX3-FOXO1 through RhoA-MKL1-SRF signaling pathway and impairs cell proliferation, migration and tumor growth in Alveolar Rhabdomyosarcoma. | 44 |
| 39448867 | 2025 | Dependence of PAX3-FOXO1 chromatin occupancy on ETS1 at important disease-promoting genes exposes new targetable vulnerability in Fusion-Positive Rhabdomyosarcoma. | 44 |
| 24107448 | 2013 | Small molecule inhibition of PAX3-FOXO1 through AKT activation suppresses malignant phenotypes of alveolar rhabdomyosarcoma. | 44 |
| 28883017 | 2017 | NFκB signaling in alveolar rhabdomyosarcoma. | 43 |
| 23733015 | 2013 | Identification of target genes of PAX3-FOXO1 in alveolar rhabdomyosarcoma. | 40 |
| 23814486 | 2013 | PAX3-FOXO1 induces up-regulation of Noxa sensitizing alveolar rhabdomyosarcoma cells to apoptosis. | 39 |
| 25985210 | 2015 | The oncogenic role of the cochaperone Sgt1. | 39 |
| 30593263 | 2019 | PAX3-FOXO1 escapes miR-495 regulation during muscle differentiation. | 38 |
| 34552155 | 2021 | Reduced B7-H3 expression by PAX3-FOXO1 knockdown inhibits cellular motility and promotes myogenic differentiation in alveolar rhabdomyosarcoma. | 38 |
| 29861864 | 2018 | PPP2R1A regulated by PAX3/FOXO1 fusion contributes to the acquisition of aggressive behavior in PAX3/FOXO1-positive alveolar rhabdomyosarcoma. | 35 |
| 37627061 | 2023 | Preclinical Evaluation of the FGFR-Family Inhibitor Futibatinib for Pediatric Rhabdomyosarcoma. | 35 |
| 28138962 | 2017 | PAX3-FOXO1 is essential for tumour initiation and maintenance but not recurrence in a human myoblast model of rhabdomyosarcoma. | 33 |
| 30459282 | 2018 | The HDAC3-SMARCA4-miR-27a axis promotes expression of the PAX3:FOXO1 fusion oncogene in rhabdomyosarcoma. | 33 |
| 32416589 | 2020 | Miswired Enhancer Logic Drives a Cancer of the Muscle Lineage. | 33 |
| 32100935 | 2020 | Pediatric rhabdomyosarcoma with bone marrow metastasis. | 32 |
| 22089931 | 2012 | PAX3/7-FOXO1 fusion status in older rhabdomyosarcoma patient population by fluorescent in situ hybridization. | 28 |
| 21440083 | 2011 | Identification of serines 201 and 209 as sites of Pax3 phosphorylation and the altered phosphorylation status of Pax3-FOXO1 during early myogenic differentiation. | 28 |
| 37146302 | 2022 | Rhabdomyosarcomas are oncogene addicted to the activation of AVIL. | 27 |
| 33299109 | 2021 | Immunohistochemical detection of PAX-FOXO1 fusion proteins in alveolar rhabdomyosarcoma using breakpoint specific monoclonal antibodies. | 25 |
| 39147820 | 2024 | Entinostat as a combinatorial therapeutic for rhabdomyosarcoma. | 24 |
| 23469153 | 2013 | Cyclin-dependent kinase 4 phosphorylates and positively regulates PAX3-FOXO1 in human alveolar rhabdomyosarcoma cells. | 23 |
| 25883905 | 2015 | The case for primary salivary rhabdomyosarcoma. | 16 |
| 38581035 | 2024 | TRIB3 silencing promotes the downregulation of Akt pathway and PAX3-FOXO1 in high-risk rhabdomyosarcoma. | 12 |
| 26355893 | 2016 | Alternate PAX3-FOXO1 oncogenic fusion in biphenotypic sinonasal sarcoma. | 11 |
| 29146205 | 2018 | PAX3-FOXO1: Zooming in on an "undruggable" target. | 0 |
| 26008753 | 2015 | Prognostic value of PAX3/7-FOXO1 fusion status in alveolar rhabdomyosarcoma: Systematic review and meta-analysis. | 0 |
| 38477090 | 2023 | Biphenotypic sinonasal sarcoma with PAX3/FOXO1 fusion. | 0 |
| 27453350 | 2016 | P/CAF mediates PAX3-FOXO1-dependent oncogenesis in alveolar rhabdomyosarcoma. | 0 |
| 38996706 | 2024 | Anlotinib destabilizes PAX3-FOXO1 to induce rhabdomyosarcoma cell death via upregulating NEK2. | 0 |
| 39868247 | 2025 | PAX3-FOXO1 drives targetable cell state-dependent metabolic vulnerabilities in rhabdomyosarcoma. | 0 |
| 21882254 | 2012 | PAX3-FOXO1 and FGFR4 in alveolar rhabdomyosarcoma. | 0 |
| 35465663 | 2022 | Dentithecamides A-H, Diacylated Zoanthoxanthin Derivatives with PAX3-FOXO1 Inhibitory Activity from the Hydroid Dentitheca habereri. | 0 |
| 34980443 | 2022 | [Alveolar rhabdomyosarcoma: Two fusion-negative cases lacking PAX3-FOXO1 and PAX7-FOXO1]. | 0 |
| 25398439 | 2015 | PLK1 phosphorylates PAX3-FOXO1, the inhibition of which triggers regression of alveolar Rhabdomyosarcoma. | 0 |
| 38885148 | 2024 | Targeted immunotherapy and nanomedicine for rhabdomyosarcoma: The way of the future. | 0 |
| 22037868 | 2011 | PAX3-FOXO1 induces cannabinoid receptor 1 to enhance cell invasion and metastasis. | 0 |
| 32800827 | 2021 | Gene Fusions in Ocular Adnexal Tumors. | 0 |
| 31989508 | 2020 | Signaling pathways in Rhabdomyosarcoma invasion and metastasis. | 0 |
| 23645752 | 2013 | Regulation of target genes of PAX3-FOXO1 in alveolar rhabdomyosarcoma. | 0 |
| 31888889 | 2020 | Aurora A Kinase Inhibition Destabilizes PAX3-FOXO1 and MYCN and Synergizes with Navitoclax to Induce Rhabdomyosarcoma Cell Death. | 0 |
| 27261335 | 2016 | RGD liposome-protamine-siRNA (LPR) nanoparticles targeting PAX3-FOXO1 for alveolar rhabdomyosarcoma therapy. | 0 |
| 22454413 | 2012 | PAX3/FOXO1 fusion gene status is the key prognostic molecular marker in rhabdomyosarcoma and significantly improves current risk stratification. | 0 |
| 39071299 | 2024 | Rhabdomyosarcoma fusion oncoprotein initially pioneers a neural signature in vivo. | 0 |
| 36722003 | 2023 | PAX-FOXO1 fusion status in children and adolescents with alveolar rhabdomyosarcoma: Impact on clinical, pathological, and survival features. | 0 |
| 38526790 | 2024 | CRISPR-Cas9-Mediated Bioluminescent Tagging of Endogenous Proteins by Fluorescent Protein-Assisted Cell Sorting. | 0 |
| 18414034 | 2008 | Guilt by association: PAX3-FOXO1 regulates gene expression through selective destabilization of the EGR1 transcription factor. | 0 |
| 36044855 | 2022 | The RNA helicase DDX5 cooperates with EHMT2 to sustain alveolar rhabdomyosarcoma growth. | 0 |
| 39211084 | 2024 | PAX fusion proteins deregulate gene networks controlling mitochondrial translation in pediatric rhabdomyosarcoma. | 0 |
| 29277758 | 2018 | Sphingosine Induces Apoptosis and Down-regulation of MYCN in PAX3-FOXO1-positive Alveolar Rhabdomyosarcoma Cells Irrespective of TP53 Mutation. | 0 |
| 34218227 | 2022 | A Review of Effusion Cytomorphology of Small Round Cell Tumors. | 0 |
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 18483260 | 2008 | Phosphorylation regulates transcriptional activity of PAX3/FKHR and reveals novel therapeutic possibilities. | Amstutz R et al |
| 11556833 | 2001 | Detection of the PAX3-FKHR fusion gene in paediatric rhabdomyosarcoma: a reproducible predictor of outcome? | Anderson J et al |
| 8875239 | 1996 | Detection of the t(2;13) chromosomal translocation in alveolar rhabdomyosarcoma using the reverse transcriptase-polymerase chain reaction. | Arden KC et al |
| 19422036 | 2009 | Genomic and clinical analyses of 2p24 and 12q13-q14 amplification in alveolar rhabdomyosarcoma: a report from the Children's Oncology Group. | Barr FG et al |
| 8098985 | 1993 | Rearrangement of the PAX3 paired box gene in the paediatric solid tumour alveolar rhabdomyosarcoma. | Barr FG et al |
| 9530337 | 1998 | Structural analysis of PAX3 genomic rearrangements in alveolar rhabdomyosarcoma. | Barr FG et al |
| 16645206 | 2006 | Examination of gene fusion status in archival samples of alveolar rhabdomyosarcoma entered on the Intergroup Rhabdomyosarcoma Study-III trial: a report from the Children's Oncology Group. | Barr FG et al |
| 8526204 | 1995 | A consensus polymerase chain reaction-oligonucleotide hybridization approach for the detection of chromosomal translocations in pediatric bone and soft tissue sarcomas. | Barr FG et al |
| 11607823 | 2001 | Gene fusions involving PAX and FOX family members in alveolar rhabdomyosarcoma. | Barr FG et al |
| 8643596 | 1996 | Mechanism for transcriptional gain of function resulting from chromosomal translocation in alveolar rhabdomyosarcoma. | Bennicelli JL et al |
| 8917562 | 1996 | Induction of apoptosis in rhabdomyosarcoma cells through down-regulation of PAX proteins. | Bernasconi M et al |
| 7536457 | 1995 | Detection of the t(2;13)(q35;q14) and PAX3-FKHR fusion in alveolar rhabdomyosarcoma by fluorescence in situ hybridization. | Biegel JA et al |
| 17506689 | 2007 | The role of Pax genes in the development of tissues and organs: Pax3 and Pax7 regulate muscle progenitor cell functions. | Buckingham M et al |
| 19147825 | 2009 | Molecular classification of rhabdomyosarcoma--genotypic and phenotypic determinants of diagnosis: a report from the Children's Oncology Group. | Davicioni E et al |
| 9223312 | 1997 | Fusion genes resulting from alternative chromosomal translocations are overexpressed by gene-specific mechanisms in alveolar rhabdomyosarcoma. | Davis RJ et al |
| 3691179 | 1987 | A specific chromosomal abnormality in rhabdomyosarcoma. | Douglass EC et al |
| 15688409 | 2005 | Co-expression of alternatively spliced forms of PAX3, PAX7, PAX3-FKHR and PAX7-FKHR with distinct DNA binding and transactivation properties in rhabdomyosarcoma. | Du S et al |
| 17525748 | 2007 | Comparative expression profiling identifies an in vivo target gene signature with TFAP2B as a mediator of the survival function of PAX3/FKHR. | Ebauer M et al |
| 7744814 | 1995 | Pax3 inhibits myogenic differentiation of cultured myoblast cells. | Epstein JA et al |
| 9546061 | 1998 | Normal and rearranged PAX3 expression in human rhabdomyosarcoma. | Frascella E et al |
| 8275086 | 1993 | Fusion of a fork head domain gene to PAX3 in the solid tumour alveolar rhabdomyosarcoma. | Galili N et al |
| 11452933 | 2001 | Cytogenetic abnormalities in 42 rhabdomyosarcoma: a United Kingdom Cancer Cytogenetics Group Study. | Gordon T et al |
| 16288288 | 2005 | FOXO transcription factors at the interface between longevity and tumor suppression. | Greer EL et al |
| 15492844 | 2004 | Human FOX gene family (Review). | Katoh M et al |
| 17613043 | 2007 | Pax3-fkhr and pax7-fkhr fusion genes impact outcome of alveolar rhabdomyosarcoma in children. | Kazanowska B et al |
| 15489287 | 2004 | Alveolar rhabdomyosarcomas in conditional Pax3:Fkhr mice: cooperativity of Ink4a/ARF and Trp53 loss of function. | Keller C et al |
| 10557309 | 1999 | cDNA microarrays detect activation of a myogenic transcription program by the PAX3-FKHR fusion oncogene. | Khan J et al |
| 9858583 | 1999 | The oncogenic potential of the Pax3-FKHR fusion protein requires the Pax3 homeodomain recognition helix but not the Pax3 paired-box DNA binding domain. | Lam PY et al |
| 18335505 | 2008 | Identification of PAX3-FKHR-regulated genes differentially expressed between alveolar and embryonal rhabdomyosarcoma: focus on MYCN as a biologically relevant target. | Mercado GE et al |
| 19047133 | 2008 | Defining the cooperative genetic changes that temporally drive alveolar rhabdomyosarcoma. | Naini S et al |
| 19339268 | 2009 | Credentialing a preclinical mouse model of alveolar rhabdomyosarcoma. | Nishijo K et al |
| 16607381 | 2006 | Use of a novel FISH assay on paraffin-embedded tissues as an adjunct to diagnosis of alveolar rhabdomyosarcoma. | Nishio J et al |
| 17527077 | 2007 | Correlation between histology and PAX/FKHR fusion status in alveolar rhabdomyosarcoma: a report from the Children's Oncology Group. | Parham DM et al |
| 8943815 | 1996 | The diagnostic potential of the chromosome translocation t(2;13) in rhabdomyosarcoma: a Pcr study of fresh-frozen and paraffin-embedded tumour samples. | Reichmuth C et al |
| 18701482 | 2008 | Mouse mesenchymal stem cells expressing PAX-FKHR form alveolar rhabdomyosarcomas by cooperating with secondary mutations. | Ren YX et al |
| 8790412 | 1996 | The hybrid PAX3-FKHR fusion protein of alveolar rhabdomyosarcoma transforms fibroblasts in culture. | Scheidler S et al |
| 12039929 | 2002 | PAX3-FKHR and PAX7-FKHR gene fusions are prognostic indicators in alveolar rhabdomyosarcoma: a report from the children's oncology group. | Sorensen PH et al |
| 3943053 | 1986 | Consistent chromosomal translocation in alveolar rhabdomyosarcoma. | Turc-Carel C et al |
| 15313887 | 2004 | Gene expression signatures identify rhabdomyosarcoma subtypes and detect a novel t(2;2)(q35;p23) translocation fusing PAX3 to NCOA1. | Wachtel M et al |
| 3338090 | 1988 | Chromosomal analysis of sixteen human rhabdomyosarcomas. | Wang-Wuu S et al |
| 1283318 | 1992 | Cytogenetic studies in subgroups of rhabdomyosarcoma. | Whang-Peng J et al |
| 15286710 | 2004 | Analysis of the transforming and growth suppressive activities of the PAX3-FKHR oncoprotein. | Xia SJ et al |
| 19893043 | 2009 | High expression of the PAX3-FKHR oncoprotein is required to promote tumorigenesis of human myoblasts. | Xia SJ et al |
| 7495283 | 1995 | Detection of chimeric transcripts in desmoplastic small round cell tumor and related developmental tumors by reverse transcriptase polymerase chain reaction. A specific diagnostic assay. | de Alava E et al |
| 10602488 | 1999 | Regulation of the forkhead transcription factor FKHR, but not the PAX3-FKHR fusion protein, by the serine/threonine kinase Akt. | del Peso L et al |
Citation
Frederic G Barr
Soft Tissues: Alveolar rhabdomyosarcoma with t(2;13)(q35;q14) PAX3/FOXO1
Atlas Genet Cytogenet Oncol Haematol. 2010-07-01
Online version: http://atlasgeneticsoncology.org/solid-tumor/5013
