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

Disease

Acute myeloid leukemia (AML)

Note

Possibly heterogenous (see data on genes).

Epidemiology

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.

Prognosis

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

Genes Involved and Proteins

Note
  • 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)
    Location
    8p11.23
    Protein description
    Suggested role in chromatin remodeling.
    Gene name
    NUP98 (nucleoporin 98 kDa)
    Location
    11p15.4
    Protein description
    Nuclear membrane localisation; nucleoporin: associated with the nuclear pore complex; role in nucleocytoplasmic transport processes.

    Result of the Chromosomal Anomaly

    Transcript

    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.

    Bibliography

    Pubmed IDLast YearTitleAuthors

    Summary

    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

    Citation

    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/js/lib/deep-insight-explorer/