t(1;13)(p36;q14) PAX7/FOXO1

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

Clinics and Pathology

Disease

Alveolar rhabdomyosarcoma

Genes Involved and Proteins

Gene name
Location
1p36.13
Gene name
Location
13q14.11

Highly cited references

Pubmed IDYearTitleCitations
224544132012PAX3/FOXO1 fusion gene status is the key prognostic molecular marker in rhabdomyosarcoma and significantly improves current risk stratification.109
230796622012A mouse model of rhabdomyosarcoma originating from the adipocyte lineage.65
247931352014A recurrent neomorphic mutation in MYOD1 defines a clinically aggressive subset of embryonal rhabdomyosarcoma associated with PI3K-AKT pathway mutations.57
199536352010Recurrent t(2;2) and t(2;8) translocations in rhabdomyosarcoma without the canonical PAX-FOXO1 fuse PAX3 to members of the nuclear receptor transcriptional coactivator family.52
194220362009Genomic and clinical analyses of 2p24 and 12q13-q14 amplification in alveolar rhabdomyosarcoma: a report from the Children's Oncology Group.41
192359222009Genomic imbalances in rhabdomyosarcoma cell lines affect expression of genes frequently altered in primary tumors: an approach to identify candidate genes involved in tumor development.40
258103752015CDK4 Amplification Reduces Sensitivity to CDK4/6 Inhibition in Fusion-Positive Rhabdomyosarcoma.29
212204702011Genomic and clinical analysis of amplification of the 13q31 chromosomal region in alveolar rhabdomyosarcoma: a report from the Children's Oncology Group.29
267568832016Histology, Fusion Status, and Outcome in Alveolar Rhabdomyosarcoma With Low-Risk Clinical Features: A Report From the Children's Oncology Group.24
262268452015Distinct methylation profiles characterize fusion-positive and fusion-negative rhabdomyosarcoma.23
280588502017Molecular diagnostics in the management of rhabdomyosarcoma.20
224474992012Genomic and clinical analysis of fusion gene amplification in rhabdomyosarcoma: a report from the Children's Oncology Group.20
246186102014Myogenin, AP2β, NOS-1, and HMGA2 are surrogate markers of fusion status in rhabdomyosarcoma: a report from the soft tissue sarcoma committee of the children's oncology group.17
293677562018PAX3-FOXO1 drives miR-486-5p and represses miR-221 contributing to pathogenesis of alveolar rhabdomyosarcoma.16
272776782016PAX7 is a required target for microRNA-206-induced differentiation of fusion-negative rhabdomyosarcoma.14
245178892014ChildSeq-RNA: A next-generation sequencing-based diagnostic assay to identify known fusion transcripts in childhood sarcomas.14
216666862011FOXO1-FGFR1 fusion and amplification in a solid variant of alveolar rhabdomyosarcoma.13
247305672014Histopathological, immunohistochemical and molecular cytogenetic analysis of 21 spindle cell/sclerosing rhabdomyosarcomas.9
260087532015Prognostic value of PAX3/7-FOXO1 fusion status in alveolar rhabdomyosarcoma: Systematic review and meta-analysis.8
189739192009Alveolar rhabdomyosarcoma of the head and neck region in older adults: genetic characterization and a review of the literature.8
285979422017Copy number alterations determined by single nucleotide polymorphism array testing in the clinical laboratory are indicative of gene fusions in pediatric cancer patients.7
220899312012PAX3/7-FOXO1 fusion status in older rhabdomyosarcoma patient population by fluorescent in situ hybridization.6
264125932015Human rhabdomyosarcoma cells express functional erythropoietin receptor: Potential therapeutic implications.5
183034112008Detection of FOXO1 (FKHR) gene break-apart by fluorescence in situ hybridization in formalin-fixed, paraffin-embedded alveolar rhabdomyosarcomas and its clinicopathologic correlation.5
332991092021Immunohistochemical detection of PAX-FOXO1 fusion proteins in alveolar rhabdomyosarcoma using breakpoint specific monoclonal antibodies.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
211777672011IRIZIO: a novel gene cooperating with PAX3-FOXO1 in alveolar rhabdomyosarcoma (ARMS).4
185611772008Genetic diagnosis of alveolar rhabdomyosarcoma in the bone marrow of a patient without evidence of primary tumor.4
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
332163822021Survival outcomes of patients with localized FOXO1 fusion-positive rhabdomyosarcoma treated on recent clinical trials: A report from the Soft Tissue Sarcoma Committee of the Children's Oncology Group.3
197042582009The utility of FOXO1 fluorescence in situ hybridization (FISH) in formalin-fixed paraffin-embedded specimens in the diagnosis of alveolar rhabdomyosarcoma.3
192157902009A novel PAX3 rearrangement in embryonal rhabdomyosarcoma.3
324893282020Oncogenic role of HMGA2 in fusion-negative rhabdomyosarcoma cells.2
288830172017NFκB signaling in alveolar rhabdomyosarcoma.2
273843332016[Grading of soft tissue and bone sarcomas].2
344246072021PAX3-NCOA1 alveolar rhabdomyosarcoma of the tongue: A rare entity with challenging diagnosis and management.1
331825562020FAK Signaling in Rhabdomyosarcoma.1
327154452020Establishment and characterization of a novel alveolar rhabdomyosarcoma cell line, NCC-aRMS1-C1.1
330727482020Intratumoral Translocation Positive Heterogeneity in Pediatric Alveolar Rhabdomyosarcoma Tumors Correlates to Patient Survival Prognosis.1
294212852016Alveolar rhabdomyosarcoma: origin and prognostic implications of molecular findings.1
254919432014A rapid one-generation genetic screen in a Drosophila model to capture rhabdomyosarcoma effectors and therapeutic targets.1
343897442021Expression of oncogenic HRAS in human Rh28 and RMS-YM rhabdomyosarcoma cells leads to oncogene-induced senescence.0
356049322022Divergent transcriptional and transforming properties of PAX3-FOXO1 and PAX7-FOXO1 paralogs.0
337368762021Changes in FXR1 expression after Chemotherapy for Rhabdomyosarcoma.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
334391122021Rhabdomyosarcoma: From Obscurity to Clarity in Diagnosis … But With Ongoing Challenges in Management: The Farber-Landing Lecture of 2020.0
346390122021MS-275 (Entinostat) Promotes Radio-Sensitivity in PAX3-FOXO1 Rhabdomyosarcoma Cells.0
317974242020Primary cutaneous alveolar rhabdomyosarcoma in an adolescent - A challenging diagnosis.0
270179052016Treatment Strategy for Pediatric Paratesticular Rhabdomyosarcoma Based on Chimeric Gene Assessment.0
259123192015The comparative utility of fluorescence in situ hybridization and reverse transcription-polymerase chain reaction in the diagnosis of alveolar rhabdomyosarcoma.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

PAX7/FOXO1 PAX7 (1p36.13) FOXO1 (13q14.11)

Note

Non-annotated chromosomal abnormality. Preliminary data :
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Citation

Philippe Dessen ; Jean-Loup Huret

t(1;13)(p36;q14) PAX7/FOXO1

Atlas Genet Cytogenet Oncol Haematol. 2018-01-01

Online version: http://atlasgeneticsoncology.org/haematological/3385/t(1;13)(p36;q14)-pax7-foxo1