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


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


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

Genes Involved and Proteins

Gene name
NUP98 (nucleoporin 98 kDa)
Protein description
Nucleoporin: associated with the nuclear pore complex. Role in nucleocytoplasmic transport processes.
Gene name
SETBP1 (SET binding protein 1)
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


5 NUP98 - 3 SETBP1


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.1


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


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


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)