t(12;22)(p13;q12) EWSR1/ZNF384

2007-11-01   Roberta La Starza , Cristina Mecucci , Paolo Gorello 

1.Hematology, University of Perugia, via Brunamonti, 06122 Perugia, Italy

Clinics and Pathology


Acute leukemias

Phenotype stem cell origin

Pro-B acute lymphoblastic leukemia with expression of myeloid antigens; biphenotypic leukemia.


Relatively good prognosis.

Genes Involved and Proteins

Gene name
ZNF384 (Zinc Finger protein 384)
Protein description
Belongs to the Kruppel C2H2-type zinc-finger protein family; contains 8 C2H2-type zinc fingers. Nucleocytoplasmic shuttling protein and transcription factor.
Gene name
EWSR1 (Ewing sarcoma breakpoint region 1)

Result of the Chromosomal Anomaly


5 EWSR1 - 3 ZNF384
Atlas Image
Schematic representation of the EWSR1-ZNF384 fusion protein. SYQG, Ser-Tyr-Gln-Gly transactivating domain; LZ, leucine-rich domain; SR, serine rich domain; PR, Proline rich domain; NLS, Nuclear Localization signal; ZFs, Kruppel-type C2H2 zinc finger domains; QA, Gln-Ala repeat (see also Martini et al., 2002).

Highly cited references

Pubmed IDYearTitleCitations
323788102020High incidence of RAS pathway mutations among sentinel genetic lesions of Korean pediatric BCR-ABL1-like acute lymphoblastic leukemia.3


Pubmed IDLast YearTitleAuthors
120670682001Involvement of the nuclear matrix in the control of skeletal genes: the NMP1 (YY1), NMP2 (Cbfa1), and NMP4 (Nmp4/CIZ) transcription factors.Bidwell JP et al
168689672006Identification in human osteoarthritic chondrocytes of proteins binding to the novel regulatory site AGRE in the human matrix metalloprotease 13 proximal promoter.Fan Z et al
165101392006Interaction partners for human ZNF384/CIZ/NMP4--zyxin as a mediator for p130CAS signaling?Janssen H et al
157815762005Identifying genes that regulate bone remodeling as potential therapeutic targets.Krane SM et al
159908652005CIZ gene rearrangements in acute leukemia: report of a diagnostic FISH assay and clinical features of nine patients.La Starza R et al
123597452002Recurrent rearrangement of the Ewing's sarcoma gene, EWSR1, or its homologue, TAF15, with the transcription factor CIZ/NMP4 in acute leukemia.Martini A et al


Fusion gene

EWSR1/ZNF384 EWSR1 (22q12.2) ZNF384 (12p13.31) COF 345 346 347 348|EWSR1/ZNF384 EWSR1 (22q12.2) ZNF384 (12p13.31) M t(12;22)(p13;q12)
Atlas Image
Schematic representation of the reciprocal t(12;22)(p13;q12) translocation producing the EWSR1-ZNF384 fusion gene.


Roberta La Starza ; Cristina Mecucci ; Paolo Gorello

t(12;22)(p13;q12) EWSR1/ZNF384

Atlas Genet Cytogenet Oncol Haematol. 2007-11-01

Online version: http://atlasgeneticsoncology.org/haematological/1371/t(12;22)(p13;q12)