t(2;4)(q36;q31) PAX3/MAML3

0000-00-00   Jean-Loup Huret  , Philippe Dessen  

(Note: the fusion was discovered by NGS. Many chromosome rearrangement mechanisms such as translocation, inversion,deletion or complex rearrangement may lead to the same fusion)

Note

Non-annotated chromosomal abnormality. Preliminary data :
if you are an author who wish to write a full paper/card on this translocation,go to u00a0How to contribute

Summary

Note

Non-annotated chromosomal abnormality. Preliminary data :
if you are an author who wish to write a full paper/card on this translocation,go to  How to contribute

Genes Involved and Proteins

Gene name

Location

2q36.1

Gene name

Location

4q31.1

Highly cited references

Pubmed IDYearTitleCitations
319504692020Soft Tissue Special Issue: Biphenotypic Sinonasal Sarcoma: A Review with Emphasis on Differential Diagnosis.37
307339012019Biphenotypic Sinonasal Sarcoma-Case Report and Review of Clinicopathological Features and Diagnostic Modalities.35
263717832016Novel PAX3-NCOA1 Fusions in Biphenotypic Sinonasal Sarcoma With Focal Rhabdomyoblastic Differentiation.29
248593382014Recurrent PAX3-MAML3 fusion in biphenotypic sinonasal sarcoma.28
337152402021RREB1-MKL2 fusion in a spindle cell sinonasal sarcoma: biphenotypic sinonasal sarcoma or ectomesenchymal chondromyxoid tumor in an unusual site?28
393989352024Biphenotypic sinonasal sarcoma diagnosed by detection of PAX3-MAML3 fusion gene using integrated whole-genome and transcriptome sequencing.21
361697912023Biphenotypic Sinonasal Sarcoma with a Novel PAX3::FOXO6 Fusion: A Case Report and Review of the Literature.21
367194552023Biphenotypic sinonasal sarcoma with PAX3::MAML3 fusion transforming into high-grade rhabdomyosarcoma: report of an emerging rare phenomenon.18
308297292019Clinicopathologic and Molecular Features of a Series of 41 Biphenotypic Sinonasal Sarcomas Expanding Their Molecular Spectrum.16
263558932016Alternate PAX3-FOXO1 oncogenic fusion in biphenotypic sinonasal sarcoma.11
391470322024Novel PAX3::MAML3 Fusion Identified in Alveolar Rhabdomyosarcoma, Using DNA Methylation Profiling to Expand the Genetic Spectrum of "Fusion-Positive" Cases.0
274545702016Fusion gene profile of biphenotypic sinonasal sarcoma: an analysis of 44 cases.0
350303922022High-grade transformation of low-grade biphenotypic sinonasal sarcoma: Radiological, morphophenotypic variation and confirmatory molecular analysis.0
301094752018Biphenotypic sinonasal sarcoma: demographics, clinicopathological characteristics, molecular features, and prognosis of a recently described entity.0
364430952022Biphenotypic sinonasal sarcoma - a case report.0
293966072018[Sinonasal tumors : News from the WHO with special reference to mesenchymal entities].0
368029232023Biphenotypic Sinonasal Sarcoma: A Genetically Confirmed Case Showing Bone Invasion Accompanying a Non-neoplastic Respiratory Epithelium.0
370770952023Biphenotypic sinonasal sarcoma-A recently described entity with many mimics: A case report.0
305921812019Imprint cytology of biphenotypic sinonasal sarcoma of the paranasal sinus: A case report.0

Article Bibliography

Pubmed IDLast YearTitleAuthors
248593382014Recurrent PAX3-MAML3 fusion in biphenotypic sinonasal sarcoma.Wang X et al
263717832016Novel PAX3-NCOA1 Fusions in Biphenotypic Sinonasal Sarcoma With Focal Rhabdomyoblastic Differentiation.Huang SC et al
274545702016Fusion gene profile of biphenotypic sinonasal sarcoma: an analysis of 44 cases.Fritchie KJ et al

Citation

Jean-Loup Huret ; Philippe Dessen

t(2;4)(q36;q31) PAX3/MAML3

Atlas Genet Cytogenet Oncol Haematol. 0000-00-00

Online version: http://atlasgeneticsoncology.org/solid-tumor/105453/t(2;4)(q36;q31)-pax3-maml3