t(12;17)(p13;q11) TAF15/ZNF384

2007-11-01   Roberta La Starza  , Cristina Mecucci  , Paolo Gorello  

1.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
Atlas Image
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 IDYearTitleCitations
339883072021Systematic application of fluorescence in situ hybridization and immunophenotype profile for the identification of ZNF384 gene rearrangements in B cell acute lymphoblastic leukemia.23
271396202016t(12;17)(p13;q12)/TAF15-ZNF384 Rearrangement in Acute Lymphoblastic Leukemia.8
276074362016Mixed Phenotype Acute Leukemia with t(12;17)(p13;q21)/TAF15-ZNF384 and Other Chromosome Abnormalities.0
215047142011Identification of the TAF15-ZNF384 fusion gene in two new cases of acute lymphoblastic leukemia with a t(12;17)(p13;q12).0
282793062017TAF15-ZNF384 fusion gene in childhood mixed phenotype acute leukemia.0
232062272013Lineage switch from pro-B acute lymphoid leukemia to acute myeloid leukemia in a case with t(12;17)(p13;q11)/TAF15-ZNF384 rearrangement.0
395207262025FISH combined with RT-PCR facilitates classification of Chinese adult patients with B-other ALL through improved identification of ZNF384 rearrangement.0
355751632022A case report of a fulminant Aeromonas hydrophila soft tissue infection in a patient with acute lymphoblastic leukemia harboring a rare translocation.0
219628962011Identification of chromosomal breakpoints of cancer-specific translocations by rolling circle amplification and long-distance inverse PCR.0

Article Bibliography

Pubmed IDLast YearTitleAuthors
120670682001Involvement 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
168689672006Identification 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
165101392006Interaction partners for human ZNF384/CIZ/NMP4--zyxin as a mediator for p130CAS signaling?Janssen H et al
157815762005Identifying genes that regulate bone remodeling as potential therapeutic targets.Krane SM et al
159908652005CIZ gene rearrangements in acute leukemia: report of a diagnostic FISH assay and clinical features of nine patients.La Starza R et al
123597452002Recurrent 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
Atlas Image
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)