t(2;13)(q36;q14) PAX3/FOXO1

2018-01-01   Philippe Dessen , Jean-Loup Huret 

Clinics and Pathology

Disease

Alveolar rhabdomyosarcoma

Genes Involved and Proteins

Gene name
PAX3
Location
2q36.1
Gene name
FOXO1
Location
13q14.11

Highly cited references

Pubmed IDYearTitleCitations
284464392017PAX3-FOXO1 Establishes Myogenic Super Enhancers and Confers BET Bromodomain Vulnerability.108
312854362019Chemical genomics reveals histone deacetylases are required for core regulatory transcription.36
303733182018Therapeutic Approaches Targeting PAX3-FOXO1 and Its Regulatory and Transcriptional Pathways in Rhabdomyosarcoma.24
281389622017PAX3-FOXO1 is essential for tumour initiation and maintenance but not recurrence in a human myoblast model of rhabdomyosarcoma.24
304592822018The HDAC3-SMARCA4-miR-27a axis promotes expression of the PAX3:FOXO1 fusion oncogene in rhabdomyosarcoma.23
277600492016Helicase CHD4 is an epigenetic coregulator of PAX3-FOXO1 in alveolar rhabdomyosarcoma.21
280588502017Molecular diagnostics in the management of rhabdomyosarcoma.20
277995652016Fusion transcriptome profiling provides insights into alveolar rhabdomyosarcoma.20
318888892020Aurora A Kinase Inhibition Destabilizes PAX3-FOXO1 and MYCN and Synergizes with Navitoclax to Induce Rhabdomyosarcoma Cell Death.16
293677562018PAX3-FOXO1 drives miR-486-5p and represses miR-221 contributing to pathogenesis of alveolar rhabdomyosarcoma.16
315783742019The PAX3-FOXO1 oncogene alters exosome miRNA content and leads to paracrine effects mediated by exosomal miR-486.14
291462052018PAX3-FOXO1: Zooming in on an "undruggable" target.14
272776782016PAX7 is a required target for microRNA-206-induced differentiation of fusion-negative rhabdomyosarcoma.14
298696122018PAX3-FOXO1 transgenic zebrafish models identify HES3 as a mediator of rhabdomyosarcoma tumorigenesis.13
274545702016Fusion gene profile of biphenotypic sinonasal sarcoma: an analysis of 44 cases.13
279841162017MicroRNA and gene co-expression networks characterize biological and clinical behavior of rhabdomyosarcomas.12
319895082020Signaling pathways in Rhabdomyosarcoma invasion and metastasis.11
295148402018The Transcriptional Coactivator TAZ Is a Potent Mediator of Alveolar Rhabdomyosarcoma Tumorigenesis.11
272613352016RGD liposome-protamine-siRNA (LPR) nanoparticles targeting PAX3-FOXO1 for alveolar rhabdomyosarcoma therapy.11
307939772019New Human Chromosomal Sites with "Safe Harbor" Potential for Targeted Transgene Insertion.10
262092352016Uncovering metabolism in rhabdomyosarcoma.10
324165892020Miswired Enhancer Logic Drives a Cancer of the Muscle Lineage.9
301904242018Interleukin-24 (IL24) Is Suppressed by PAX3-FOXO1 and Is a Novel Therapy for Rhabdomyosarcoma.9
305932632019PAX3-FOXO1 escapes miR-495 regulation during muscle differentiation.9
289813962017Cancer-Specific Energy Metabolism in Rhabdomyosarcoma Cells Is Regulated by MicroRNA.9
286150692017Regulatory landscape fusion in rhabdomyosarcoma through interactions between the PAX3 promoter and FOXO1 regulatory elements.9
321009352020Pediatric rhabdomyosarcoma with bone marrow metastasis.8
308297292019Clinicopathologic and Molecular Features of a Series of 41 Biphenotypic Sinonasal Sarcomas Expanding Their Molecular Spectrum.8
310991662019Evaluation of entinostat alone and in combination with standard-of-care cytotoxic agents against rhabdomyosarcoma xenograft models.7
306101052019Reactive Oxygen Species (ROS)-Inducing Triterpenoid Inhibits Rhabdomyosarcoma Cell and Tumor Growth through Targeting Sp Transcription Factors.7
301094752018Biphenotypic sinonasal sarcoma: demographics, clinicopathological characteristics, molecular features, and prognosis of a recently described entity.7
278409562017MET/ERK2 pathway regulates the motility of human alveolar rhabdomyosarcoma cells.7
307393742019Early detection of the PAX3-FOXO1 fusion gene in circulating tumor-derived DNA in a case of alveolar rhabdomyosarcoma.6
318248512019A Perspective on Polo-Like Kinase-1 Inhibition for the Treatment of Rhabdomyosarcomas.6
305656692019Relationship of DNA methylation to mutational changes and transcriptional organization in fusion-positive and fusion-negative rhabdomyosarcoma.6
303073602019The histone deacetylase inhibitor Suberoylanilide Hydroxamic Acid (SAHA) as a therapeutic agent in rhabdomyosarcoma.6
298618642018PPP2R1A regulated by PAX3/FOXO1 fusion contributes to the acquisition of aggressive behavior in PAX3/FOXO1-positive alveolar rhabdomyosarcoma.6
292147572018Clinical and Cytogenetic Profiles of Rhabdomyosarcoma with Bone Marrow Involvement in Korean Children: A 15-Year Single-Institution Experience.6
288914392018The Regulation of Differentiation of Mesenchymal Stem-cells into Skeletal Muscle: A Look at Signalling Molecules Involved in Myogenesis.6
274540802016Comparative transcriptomic analysis reveals the oncogenic fusion protein PAX3-FOXO1 globally alters mRNA and miRNA to enhance myoblast invasion.6
343867292021Evidence of pioneer factor activity of an oncogenic fusion transcription factor.5
313255292019Pro-differentiating and radiosensitizing effects of inhibiting HDACs by PXD-101 (Belinostat) in in vitro and in vivo models of human rhabdomyosarcoma cell lines.5
300935622018Loss of MST/Hippo Signaling in a Genetically Engineered Mouse Model of Fusion-Positive Rhabdomyosarcoma Accelerates Tumorigenesis.5
274533502016P/CAF mediates PAX3-FOXO1-dependent oncogenesis in alveolar rhabdomyosarcoma.5
332991092021Immunohistochemical detection of PAX-FOXO1 fusion proteins in alveolar rhabdomyosarcoma using breakpoint specific monoclonal antibodies.4
327445002020NuRD subunit CHD4 regulates super-enhancer accessibility in rhabdomyosarcoma and represents a general tumor dependency.4
331758612020The PAX-FOXO1s trigger fast trans-differentiation of chick embryonic neural cells into alveolar rhabdomyosarcoma with tissue invasive properties limited by S phase entry inhibition.4
311134722019Preclinical rationale for entinostat in embryonal rhabdomyosarcoma.4
275884982016Acquisition of an oncogenic fusion protein serves as an initial driving mutation by inducing aneuploidy and overriding proliferative defects.4
348505362022FGF7-FGFR2 autocrine signaling increases growth and chemoresistance of fusion-positive rhabdomyosarcomas.3
349061972021Flavonoids kaempferol and quercetin are nuclear receptor 4A1 (NR4A1, Nur77) ligands and inhibit rhabdomyosarcoma cell and tumor growth.3
348369712021BAF complexes drive proliferation and block myogenic differentiation in fusion-positive rhabdomyosarcoma.3
335235582021Epigenetic regulator BMI1 promotes alveolar rhabdomyosarcoma proliferation and constitutes a novel therapeutic target.3
336277852021FOXF1 is required for the oncogenic properties of PAX3-FOXO1 in rhabdomyosarcoma.3
321443812020Fenretinide induces a new form of dynamin-dependent cell death in pediatric sarcoma.3
312992672019OLIG2 is a marker of the fusion protein-driven neurodevelopmental transcriptional signature in alveolar rhabdomyosarcoma.3
297644082018Congenital Rhabdomyosarcoma: a different clinical presentation in two cases.3
292777582018Sphingosine Induces Apoptosis and Down-regulation of MYCN in PAX3-FOXO1-positive Alveolar Rhabdomyosarcoma Cells Irrespective of TP53 Mutation.3
281975372017Fusion RNA profiling provides hints on cell of origin of mysterious tumor.3
331825482020Synthetic MIR143-3p Suppresses Cell Growth in Rhabdomyosarcoma Cells by Interrupting RAS Pathways Including PAX3-FOXO1.2
33490904202117-DMAG dually inhibits Hsp90 and histone lysine demethylases in alveolar rhabdomyosarcoma.2
331516962020Denigrins and Dactylpyrroles, Arylpyrrole Alkaloids from a Dactylia sp. Marine Sponge.2
326970142020KDM3A/Ets1 epigenetic axis contributes to PAX3/FOXO1-driven and independent disease-promoting gene expression in fusion-positive Rhabdomyosarcoma.2
324893282020Oncogenic role of HMGA2 in fusion-negative rhabdomyosarcoma cells.2
304166852018Antitumor profile of the PI3K inhibitor ZSTK474 in human sarcoma cell lines.2
301228582018Botryoid Rhabdomyosarcoma of the Conjunctiva in a Young Boy.2
283783942017Fusion gene addiction: can tumours be forced to give up the habit?2
288830172017NFκB signaling in alveolar rhabdomyosarcoma.2
291520632017Acquisition of an oncogenic fusion protein is sufficient to globally alter the landscape of miRNA expression to inhibit myogenic differentiation.2
265449162016GLI1 expression is an important prognostic factor that contributes to the poor prognosis of rhabdomyosarcoma.2
342182272022A Review of Effusion Cytomorphology of Small Round Cell Tumors.1
335895192021A Fusion Transcription Factor-Driven Cancer Progresses to a Fusion-Independent Relapse via Constitutive Activation of a Downstream Transcriptional Target.1
341879332021Negative correlation of single-cell PAX3:FOXO1 expression with tumorigenicity in rhabdomyosarcoma.1
335092642021ACTA1 is inhibited by PAX3-FOXO1 through RhoA-MKL1-SRF signaling pathway and impairs cell proliferation, migration and tumor growth in Alveolar Rhabdomyosarcoma.1
331825562020FAK Signaling in Rhabdomyosarcoma.1
333720652021A method to culture human alveolar rhabdomyosarcoma cell lines as rhabdospheres demonstrates an enrichment in stemness and Notch signaling.1
331176712020Effects of the Oncoprotein PAX3-FOXO1 on Modulation of Exosomes Function and Protein Content: Implications on Oxidative Stress Protection and Enhanced Plasticity.1
325328752020Case report for an adolescent with germline RET mutation and alveolar rhabdomyosarcoma.1
330727482020Intratumoral Translocation Positive Heterogeneity in Pediatric Alveolar Rhabdomyosarcoma Tumors Correlates to Patient Survival Prognosis.1
358135752022Immunoreactivity against fibroblast growth factor 8 in alveolar rhabdomyosarcoma patients and its involvement in tumor aggressiveness.0
358793662022Therapeutic targeting of ATR in alveolar rhabdomyosarcoma.0
358576432022Targeting KDM4 for treating PAX3-FOXO1-driven alveolar rhabdomyosarcoma.0
345820982022Congenital rhabdomyosarcoma: A report from the European paediatric Soft tissue sarcoma Study Group.0
356049322022Divergent transcriptional and transforming properties of PAX3-FOXO1 and PAX7-FOXO1 paralogs.0
354656632022Dentithecamides A-H, Diacylated Zoanthoxanthin Derivatives with PAX3-FOXO1 Inhibitory Activity from the Hydroid Dentitheca habereri.0
355743762022MET Inhibition Sensitizes Rhabdomyosarcoma Cells to NOTCH Signaling Suppression.0
351868182021Locoregional Control and Survival in Children, Adolescents, and Young Adults With Localized Head and Neck Alveolar Rhabdomyosarcoma-The French Experience.0
349804432022[Alveolar rhabdomyosarcoma: Two fusion-negative cases lacking PAX3-FOXO1 and PAX7-FOXO1].0
343897442021Expression of oncogenic HRAS in human Rh28 and RMS-YM rhabdomyosarcoma cells leads to oncogene-induced senescence.0
347205292021Transcription factors specificity protein and nuclear receptor 4A1 in pancreatic cancer.0
346390122021MS-275 (Entinostat) Promotes Radio-Sensitivity in PAX3-FOXO1 Rhabdomyosarcoma Cells.0
337368762021Changes in FXR1 expression after Chemotherapy for Rhabdomyosarcoma.0
345521552021Reduced B7-H3 expression by PAX3-FOXO1 knockdown inhibits cellular motility and promotes myogenic differentiation in alveolar rhabdomyosarcoma.0
329733622021A human Myogenin promoter modified to be highly active in alveolar rhabdomyosarcoma drives an effective suicide gene therapy.0
345733552021High Frequency of Tumor Propagating Cells in Fusion-Positive Rhabdomyosarcoma.0
334391122021Rhabdomyosarcoma: From Obscurity to Clarity in Diagnosis … But With Ongoing Challenges in Management: The Farber-Landing Lecture of 2020.0
325553142020Study of genetic correlation between children's sleep and obesity.0
333388752021Mutant myogenin promoter-controlled oncolytic adenovirus selectively kills PAX3-FOXO1-positive rhabdomyosarcoma cells.0
328008272021Gene Fusions in Ocular Adnexal Tumors.0
317974242020Primary cutaneous alveolar rhabdomyosarcoma in an adolescent - A challenging diagnosis.0

Bibliography

Pubmed IDLast YearTitleAuthors
212543732011Prognostic value of PAX-FKHR fusion status in alveolar rhabdomyosarcoma: a report from the cooperative soft tissue sarcoma study group (CWS).Stegmaier S et al

Summary

Fusion gene

PAX3/FOXO1 PAX3 (2q36.1) FOXO1 (13q14.11)

Note

Non-annotated chromosomal abnormality. Preliminary data :
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Citation

Philippe Dessen ; Jean-Loup Huret

t(2;13)(q36;q14) PAX3/FOXO1

Atlas Genet Cytogenet Oncol Haematol. 2018-01-01

Online version: http://atlasgeneticsoncology.org/haematological/3393/t(2;13)(q36;q14)-pax3-foxo1