t(12;22)(p13;q12) EWSR1/ZNF384
2007-11-01 Roberta La Starza , Cristina Mecucci , Paolo Gorello Affiliation1.Hematology, University of Perugia, via Brunamonti, 06122 Perugia, Italy
Clinics and Pathology
Disease
Acute leukemias
Phenotype stem cell origin
Pro-B acute lymphoblastic leukemia with expression of myeloid antigens; biphenotypic leukemia.
Prognosis
Relatively good prognosis.
Genes Involved and Proteins
Gene name
ZNF384 (Zinc Finger protein 384)
Location
12p13.31
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)
Location
22q12.2
Result of the Chromosomal Anomaly
Description
5 EWSR1 - 3 ZNF384
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 ID | Year | Title | Citations |
|---|---|---|---|
| 32378810 | 2020 | High incidence of RAS pathway mutations among sentinel genetic lesions of Korean pediatric BCR-ABL1-like acute lymphoblastic leukemia. | 30 |
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 12067068 | 2001 | Involvement 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 |
| 16868967 | 2006 | Identification 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 |
| 16510139 | 2006 | Interaction partners for human ZNF384/CIZ/NMP4--zyxin as a mediator for p130CAS signaling? | Janssen H et al |
| 15781576 | 2005 | Identifying genes that regulate bone remodeling as potential therapeutic targets. | Krane SM et al |
| 15990865 | 2005 | CIZ gene rearrangements in acute leukemia: report of a diagnostic FISH assay and clinical features of nine patients. | La Starza R et al |
| 12359745 | 2002 | Recurrent 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 |
Summary
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)
Schematic representation of the reciprocal t(12;22)(p13;q12) translocation producing the EWSR1-ZNF384 fusion gene.
Citation
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)-ewsr1-znf384
