Atlas of Genetics and Cytogenetics in Oncology and Haematology
t(12;19)(p13;p13)
| Identity |
 | |
| 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). | |
| 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. |
| Cytogenetics |
| Cytogenetics Morphological | The t(12;19)(p13;p13) is cryptic. |
| Genes involved and Proteins |
| Gene Name | ZNF384 (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 Name | E2A |
| Location | 19p13.3 |
| Note | TCF3 |
| Result of the chromosomal anomaly |
| Description | 5' TCF3 - 3' ZNF384 |
| External links |
| Other database | t(12;19)(p13;p13) | Mitelman database (CGAP - NCBI) |
| 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. |
| 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 |
| 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 |
| 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 |
| 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 |
| Contributor(s) |
| Written | 11-2007 | Paolo Gorello, Roberta La Starza, Cristina Mecucci |
| Hematology, University of Perugia, via Brunamonti, 06122 Perugia, Italy |
| Citation |
| This paper should be referenced as such : |
| Gorello P, La Starza R, Mecucci C . . t(12;19)(p13;p13). Atlas Genet Cytogenet Oncol Haematol. November 2007 . URL : http://AtlasGeneticsOncology.org/Anomalies/t1219p13p13ID1460.html |
This paper is referenced by INIST as such : |
| http://documents.irevues.inist.fr/bitstream/2042/38614/1/11-2007-t1219p13p13ID1460.pdf [ Bibliographic record ] |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Sat Mar 9 12:37:57 CET 2013 |
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