t(8;11)(p11;p15) NUP98/WHSC1L1

2005-03-01   Jean-Loup Huret 

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

Clinics and Pathology


Acute myeloid leukemia (AML)


Possibly heterogenous (see data on genes).


3 cases to date: 1 M1-AML, 1 M4-AML and 1 case not otherwise specified; two male patients were aged 50 and 64 years.


One patient died during induction therapy, another one achieved complete remission and was alive at 19 months+.

Genes Involved and Proteins

  • In 8p11: WHSC1L1/NSD3 was proved to be implicated in the translocation in one case, while FGFR1 was (only) suspected to be involved in a second case; this case was analysed with two probes flanking FGFR1 over a distance of about 700 kb; the two probes were found to be split in FISH experiments, indicating that FGFR1 was possibly concerned by the break. However, NDS3 is 107 kb long, is at a distance of only 30 kb from FGFR1, and FGFR1 spans 56 kb; therefore, NDS3 is also a candidate in this case.
  • In 11p15: NUP98 was found to be implicated in the translocation in one case; in the second case, probes flanking NUP98 over a distance of about 1 Mb were used; it is likely that NUP98 is also involved in this case, although the involvement of CARS, 600 kb more telomeric than NUP98, is not excluded.
  • Gene name
    NSD3 (nuclear receptor binding SET domain protein 3)
    Protein description
    Suggested role in chromatin remodeling.
    Gene name
    NUP98 (nucleoporin 98 kDa)
    Protein description
    Nuclear membrane localisation; nucleoporin: associated with the nuclear pore complex; role in nucleocytoplasmic transport processes.

    Result of the Chromosomal Anomaly


    A 5 NUP98 - 3 NSD3 fusion transcript was detected; the reciprocal transcript was also expressed. The breakpoints occurred between exons 11 and 12 of NUP98 and betweeen exons 3 and 4 in WHSC1L1/NSD3.


    Pubmed IDLast YearTitleAuthors
    66272221983The predictive value of initial cytogenetic studies in 148 adults with acute nonlymphocytic leukemia: a 12-year study (1970-1982).Larson RA et al
    119862492002NUP98 is fused to the NSD3 gene in acute myeloid leukemia associated with t(8;11)(p11.2;p15).Rosati R et al
    115502832001Identification of four new translocations involving FGFR1 in myeloid disorders.Sohal J et al


    Fusion gene

    NUP98/WHSC1L1 NUP98 (11p15.4) WHSC1L1 (8p11.23) M t(8;11)(p12;p15)|NUP98/WHSC1L1 NUP98 (11p15.4) WHSC1L1 (8p11.23) TIC


    Jean-Loup Huret

    t(8;11)(p11;p15) NUP98/WHSC1L1

    Atlas Genet Cytogenet Oncol Haematol. 2005-03-01

    Online version: http://atlasgeneticsoncology.org/haematological/1200/t(8;11)(p11;p15)