t(11;18)(p15;q12) NUP98/SETBP1

2011-10-01   Jean-Loup Huret  

1.Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

Clinics and Pathology

Disease

T-cell acute lymphoid leukemia (T-ALL)

Epidemiology

One case to date, a 9-year-old boy.

Evolution

Remission was obtained and the patient remains in complete remission 28 months after diagnosis.

Genes Involved and Proteins

Gene name
NUP98 (nucleoporin 98 kDa)
Location
11p15.4
Protein description
Nucleoporin: associated with the nuclear pore complex. Role in nucleocytoplasmic transport processes.
Gene name
SETBP1 (SET binding protein 1)
Location
18q12.3
Protein description
Contains 3 DNA binding domains (A.T hooks). SETBP1 protects SET from protease cleavage. SETBP1 forms a complex with SET and PP2A (protein phosphatase 2A). SETBP1 impairs PP2A activity via SET and promotes proliferation of acute myeloid leukemia cells (Cristóbal et al., 2010).
Germinal mutations
In Schinzel-Giedion midface retraction syndrome.

Result of the Chromosomal Anomaly

Description

5 NUP98 - 3 SETBP1

Transcript

Exon 12 of NUP98 (nucleotide (nt) 1552) fused in-frame with exon 5 of SETBP1 (nt 4015).

Highly cited references

Pubmed IDYearTitleCitations
283923952017Function of Nup98 subtypes and their fusion proteins, Nup98-TopIIβ and Nup98-SETBP1 in nuclear-cytoplasmic transport.0
172338202007Fusion of NUP98 and the SET binding protein 1 (SETBP1) gene in a paediatric acute T cell lymphoblastic leukaemia with t(11;18)(p15;q12).0

Article Bibliography

Pubmed IDLast YearTitleAuthors
199656922010SETBP1 overexpression is a novel leukemogenic mechanism that predicts adverse outcome in elderly patients with acute myeloid leukemia.Cristóbal I et al
172338202007Fusion of NUP98 and the SET binding protein 1 (SETBP1) gene in a paediatric acute T cell lymphoblastic leukaemia with t(11;18)(p15;q12).Panagopoulos I et al

Summary

Fusion gene

NUP98/SETBP1 NUP98 (11p15.4) SETBP1 (18q12.3) M t(11;18)(p15;q12)|NUP98/SETBP1 NUP98 (11p15.4) SETBP1 (18q12.3) TIC

Citation

Jean-Loup Huret

t(11;18)(p15;q12) NUP98/SETBP1

Atlas Genet Cytogenet Oncol Haematol. 2011-10-01

Online version: http://atlasgeneticsoncology.org/haematological/1466/t(11;18)(p15;q12)-nup98-setbp1