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

Written2007-11Paolo Gorello, Roberta La Starza, Cristina Mecucci
Hematology, University of Perugia, via Brunamonti, 06122 Perugia, Italy

(Note : for Links provided by Atlas : click)


ICD-Morpho 9811/3 B lymphoblastic leukaemia/lymphoma, NOS
ICD-Morpho 9861/3 AML with mutated NPM1; AML with mutated CEBPA; Acute myeloid leukaemia, NOS
Atlas_Id 1371
  Schematic representation of the reciprocal t(12;22)(p13;q12) translocation producing the EWSR1-ZNF384 fusion gene.

Clinics and Pathology

Disease Acute leukemias
Phenotype / cell stem origin Pro-B acute lymphoblastic leukemia with expression of myeloid antigens; biphenotypic leukemia.
Prognosis Relatively good prognosis.

Genes involved and Proteins

Gene NameZNF384 (Zinc Finger protein 384)
Location 12p13.31
Protein Belongs to the Kruppel C2H2-type zinc-finger protein family; contains 8 C2H2-type zinc fingers. Nucleocytoplasmic shuttling protein and transcription factor.
Gene NameEWSR1 (Ewing sarcoma breakpoint region 1)
Location 22q12.2

Result of the chromosomal anomaly

Hybrid gene
Description 5' EWSR1 - 3' ZNF384
Fusion Protein
  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).

To be noted

Additional cases are needed to delineate the epidemiology of this rare entity:
you are welcome to submit a paper to our new Case Report section.


Involvement of the nuclear matrix in the control of skeletal genes: the NMP1 (YY1), NMP2 (Cbfa1), and NMP4 (Nmp4/CIZ) transcription factors.
Bidwell JP, Torrungruang K, Alvarez M, Rhodes SJ, Shah R, Jones DR, Charoonpatrapong K, Hock JM, Watt AJ.
Crit Rev Eukaryot Gene Expr. 2001;11(4):279-97.
PMID 12067068
Identification in human osteoarthritic chondrocytes of proteins binding to the novel regulatory site AGRE in the human matrix metalloprotease 13 proximal promoter.
Fan Z, Tardif G, Boileau C, Bidwell JP, Geng C, Hum D, Watson A, Pelletier JP, Lavigne M, Martel-Pelletier J.
Arthritis Rheum. 2006 Aug;54(8):2471-80.
PMID 16868967
Interaction partners for human ZNF384/CIZ/NMP4--zyxin as a mediator for p130CAS signaling?
Janssen H, Marynen P.
Exp Cell Res. 2006 Apr 15;312(7):1194-204.
PMID 16510139
Identifying genes that regulate bone remodeling as potential therapeutic targets.
Krane SM.
J Exp Med. 2005 Mar 21;201(6):841-3.
PMID 15781576
CIZ gene rearrangements in acute leukemia: report of a diagnostic FISH assay and clinical features of nine patients.
La Starza R, Aventin A, Crescenzi B, Gorello P, Specchia G, Cuneo A, Angioni A, Bilhou-Nabera C, Boque C, Foa R, Uyttebroeck A, Talmant P, Cimino G, Martelli MF, Marynen P, Mecucci C, Hagemeijer A
Leukemia. 2005 Sep;19(9):1696-9.
PMID 15990865
Recurrent rearrangement of the Ewing's sarcoma gene, EWSR1, or its homologue, TAF15, with the transcription factor CIZ/NMP4 in acute leukemia.
Martini A, La Starza R, Janssen H, Bilhou-Nabera C, Corveleyn A, Somers R, Aventin A, Foa R, Hagemeijer A, Mecucci C, Marynen P.
Cancer Res. 2002 Oct 1;62(19):5408-12.
PMID 12359745


This paper should be referenced as such :
Gorello, P ; La, Starza R ; Mecucci, C
Atlas Genet Cytogenet Oncol Haematol. 2008;12(6):475-476.
Free journal version : [ pdf ]   [ DOI ]
On line version :

Other genes implicated (Data extracted from papers in the Atlas) [ 2 ]

Genes EWSR1 ZNF384

Translocations implicated (Data extracted from papers in the Atlas)

 t(12;22)(p13;q12) EWSR1/ZNF384

External links

EWSR1 (22q12.2) ZNF384 (12p13.31)

EWSR1 (22q12.2) ZNF384 (12p13.31)

Mitelman databaset(12;22)(p13;q12)
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9811/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9861/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
COSMIC_fusionEWSR1/ZNF384 EWSR1 (22q12.2) ZNF384 (12p13.31)   [fusion345]   [fusion346]   [fusion347]   [fusion348]  
Mitelman databaseEWSR1::ZNF384 [MCList]  EWSR1 (22q12.2) ZNF384 (12p13.31)
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed

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