t(12;17)(p13;q11) TAF15/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 (ANPEP/CD13 and/or CD33, and less frequently FUT4/CD15); acute myeloid 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
TAF15 (TAF15 TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa)
Location
17q12
Result of the Chromosomal Anomaly
Description
5 TAF15 - 3 ZNF384

Schematic representation of the TAF15-ZNF384 fusion protein. SYQG, Ser-Tyr-Gln-Gly transactivating domain; RGG, Arg-Gly-Gly rich region, (RNA binding 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 |
|---|---|---|---|
| 33988307 | 2021 | Systematic application of fluorescence in situ hybridization and immunophenotype profile for the identification of ZNF384 gene rearrangements in B cell acute lymphoblastic leukemia. | 23 |
| 27139620 | 2016 | t(12;17)(p13;q12)/TAF15-ZNF384 Rearrangement in Acute Lymphoblastic Leukemia. | 8 |
| 27607436 | 2016 | Mixed Phenotype Acute Leukemia with t(12;17)(p13;q21)/TAF15-ZNF384 and Other Chromosome Abnormalities. | 0 |
| 21504714 | 2011 | Identification of the TAF15-ZNF384 fusion gene in two new cases of acute lymphoblastic leukemia with a t(12;17)(p13;q12). | 0 |
| 28279306 | 2017 | TAF15-ZNF384 fusion gene in childhood mixed phenotype acute leukemia. | 0 |
| 23206227 | 2013 | Lineage switch from pro-B acute lymphoid leukemia to acute myeloid leukemia in a case with t(12;17)(p13;q11)/TAF15-ZNF384 rearrangement. | 0 |
| 39520726 | 2025 | FISH combined with RT-PCR facilitates classification of Chinese adult patients with B-other ALL through improved identification of ZNF384 rearrangement. | 0 |
| 35575163 | 2022 | A case report of a fulminant Aeromonas hydrophila soft tissue infection in a patient with acute lymphoblastic leukemia harboring a rare translocation. | 0 |
| 21962896 | 2011 | Identification of chromosomal breakpoints of cancer-specific translocations by rolling circle amplification and long-distance inverse PCR. | 0 |
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
TAF15/ZNF384 TAF15 (17q12) ZNF384 (12p13.31) M t(12;17)(p13;q12)|TAF15/ZNF384 TAF15 (17q12) ZNF384 (12p13.31) TIC

A) schematic representation of the reciprocal t(12;17)(p13;q11) 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).
Citation
Roberta La Starza ; Cristina Mecucci ; Paolo Gorello
t(12;17)(p13;q11) TAF15/ZNF384
Atlas Genet Cytogenet Oncol Haematol. 2007-11-01
Online version: http://atlasgeneticsoncology.org/haematological/1369/t(12;17)(p13;q11)-taf15-znf384
