t(12;19)(p13;p13) TCF3/ZNF384

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

(Note : for Links provided by Atlas : click)

1. Identity

ICD-Morpho 9989/3 Myelodysplastic syndrome, unclassifiable
Atlas_Id 1460
  A) schematic representation of the reciprocal t(12;19)(p13;p13) translocation; B) Break-a-part FISH: RP11-369N23 maps telomeric to the 3'ZNF384 while RP11-101F21 partially overlaps with the 5' end of ZNF384 (RP11 clones belong to the Peter De Jong library and were kindly provided by M Rocchi).

2. Clinics and Pathology

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

3. Cytogenetics

Cytogenetics Morphological The t(12;19)(p13;p13) is cryptic.

4. 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 NameTCF3 (transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47))
Location 19p13.3
Note TCF3

5. Result of the chromosomal anomaly

Hybrid gene
Description 5' TCF3 - 3' ZNF384

6. 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.

7. Bibliography

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

8. Citation

This paper should be referenced as such :
Gorello, P ; La, Starza R ; Mecucci, C
Atlas Genet Cytogenet Oncol Haematol. 2008;12(6):473-474.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://atlasgeneticsoncology.usal.es/classic/Anomalies/t1219p13p13ID1460.html

9. Translocations implicated (Data extracted from papers in the Atlas)

 t(12;19)(p13;p13) TCF3/ZNF384

10. External links

TCF3 (19p13.3) ZNF384 (12p13.31)

TCF3 (19p13.3) ZNF384 (12p13.31)

Mitelman databaset(12;19)(p13;p13) [Case List]    t(12;19)(p13;p13) [Transloc-MCList] TCF3/ZNF384 [Fusion-MCList]
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9989/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
Mitelman databaseTCF3/ZNF384 [MCList]  TCF3 (19p13.3) ZNF384 (12p13.31)
TICdbTCF3/ZNF384  TCF3 (19p13.3) ZNF384 (12p13.31)
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed

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indexed on : Wed Nov 28 16:19:30 CET 2018

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