| Written | 2007-11 | Paolo Gorello, Roberta La Starza, Cristina Mecucci |
| Hematology, University of Perugia, via Brunamonti, 06122 Perugia, Italy |
| Identity |
| ICD-Topo | C420,C421,C424 BLOOD, BONE MARROW, & HEMATOPOIETIC SYS |
| 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). | |
| 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 | TCF3 (transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47)) |
| Location | 19p13.3 |
| Note | TCF3 |
| Result of the chromosomal anomaly |
| Description | 5' TCF3 - 3' ZNF384 |
| 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 |
| 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 |
| 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. 2008;12(6):473-474. |
| Free journal version : [ pdf ] [ DOI ] |
| On line version : http://AtlasGeneticsOncology.org/Anomalies/t1219p13p13ID1460.html |
| Other genes implicated (Data extracted from papers in the Atlas) [ 2 ] |
| Genes | TCF3 | ZNF384 |
| Translocations implicated (Data extracted from papers in the Atlas) |
| t(12;19)(p13;p13) TCF3/ZNF384 | |
| External links |
| Mitelman database | t(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 database | TCF3/ZNF384 [MCList] TCF3 (19p13.3) ZNF384 (12p13.31) |
| TICdb | TCF3/ZNF384 TCF3 (19p13.3) ZNF384 (12p13.31) |
| REVIEW articles | automatic search in PubMed |
| Last year articles | automatic search in PubMed |
| All articles | automatic search in PubMed |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Mon May 14 13:40:54 CEST 2018 |
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