t(12;22)(p13;q13) EP300/ZNF384

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

Clinics and Pathology

Disease

Acute lymphoblastic leukemia/lymphoblastic lymphoma|Bilineage or biphenotypic leukemia

Genes Involved and Proteins

Gene name
EP300
Location
22q13.2
Gene name
ZNF384
Location
12p13.31

Highly cited references

Pubmed IDYearTitleCitations
274284282016Genomic Profiling of Adult and Pediatric B-cell Acute Lymphoblastic Leukemia.105
276342052017ZNF384-related fusion genes define a subgroup of childhood B-cell precursor acute lymphoblastic leukemia with a characteristic immunotype.58
279036462017Whole-transcriptome sequencing identifies a distinct subtype of acute lymphoblastic leukemia with predominant genomic abnormalities of EP300 and CREBBP.44
259431782015A novel recurrent EP300-ZNF384 gene fusion in B-cell precursor acute lymphoblastic leukemia.34
271810632016Comprehensive genomic analysis reveals FLT3 activation and a therapeutic strategy for a patient with relapsed adult B-lymphoblastic leukemia.27
295313232018Pre-B acute lymphoblastic leukaemia recurrent fusion, EP300-ZNF384, is associated with a distinct gene expression.12
283780552017EP300-ZNF384 fusion gene product up-regulates GATA3 gene expression and induces hematopoietic stem cell gene expression signature in B-cell precursor acute lymphoblastic leukemia cells.6
262932032015Establishment and genetic characterization of a novel mixed-phenotype acute leukemia cell line with EP300-ZNF384 fusion.3
329808882020Detection of EP300-ZNF384 fusion in patients with acute lymphoblastic leukemia using RNA fusion gene panel sequencing.2
312342262019ZNF384-fusion proteins have high affinity for the transcriptional coactivator EP300 and aberrant transcriptional activities.1
339883072021Systematic application of fluorescence in situ hybridization and immunophenotype profile for the identification of ZNF384 gene rearrangements in B cell acute lymphoblastic leukemia.1
320272482020[Analysis of Clinical Characteristics of Acute B Lymphoblastic Leukemia with EP300-ZNF384 Fusion Gene Positive].1
352479022022ZNF384 Fusion Oncoproteins Drive Lineage Aberrancy in Acute Leukemia.0
347444372021MRD-Negative Remission Induced in EP300-ZNF384 Positive B-ALL Patients by Tandem CD19/CD22 CAR T-Cell Therapy Bridging to Allogeneic Stem Cell Transplantation.0
331455962021Detection of a Cryptic EP300/ZNF384 Gene Fusion by Chromosomal Microarray and Next-Generation Sequencing Studies in a Pediatric Patient with B-Lymphoblastic Leukemia.0

Bibliography

Pubmed IDLast YearTitleAuthors
259431782015A novel recurrent EP300-ZNF384 gene fusion in B-cell precursor acute lymphoblastic leukemia.Gocho Y et al
270191132016Recurrent DUX4 fusions in B cell acute lymphoblastic leukemia of adolescents and young adults.Yasuda T et al
272658952016Identification of ETV6-RUNX1-like and DUX4-rearranged subtypes in paediatric B-cell precursor acute lymphoblastic leukaemia.Lilljebjörn H et al
273921232016Frequency and outcome of pediatric acute lymphoblastic leukemia with ZNF384 gene rearrangements including a novel translocation resulting in an ARID1B/ZNF384 gene fusion.Shago M et al
274284282016Genomic Profiling of Adult and Pediatric B-cell Acute Lymphoblastic Leukemia.Liu YF et al
278240512016Genomic analyses identify recurrent MEF2D fusions in acute lymphoblastic leukaemia.Gu Z et al
262932032015Establishment and genetic characterization of a novel mixed-phenotype acute leukemia cell line with EP300-ZNF384 fusion.Ping N et al

Summary

Fusion gene

EP300/ZNF384 EP300 (22q13.2) ZNF384 (12p13.31)

Note

Non-annotated chromosomal abnormality. Preliminary data :
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Citation

Philippe Dessen ; Jean-Loup Huret

t(12;22)(p13;q13) EP300/ZNF384

Atlas Genet Cytogenet Oncol Haematol. 2018-01-01

Online version: http://atlasgeneticsoncology.org/haematological/1771/t(12;22)(p13;q13)-ep300-znf384