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

Written2005-03Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)


ICD-Morpho 9861/3 AML with mutated NPM1; AML with mutated CEBPA; Acute myeloid leukaemia, NOS
Atlas_Id 1200

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+.


Cytogenetics Morphological Sole anomaly in 1 case, accompanied with del(9q) in another case.

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 NameNSD3 (nuclear receptor binding SET domain protein 3)
    Location 8p11.23
    Protein Suggested role in chromatin remodeling.
    Gene NameNUP98 (nucleoporin 98 kDa)
    Location 11p15.4
    Protein Nuclear membrane localisation; nucleoporin: associated with the nuclear pore complex; role in nucleocytoplasmic transport processes.

    Result of the chromosomal anomaly

    Hybrid gene
    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.

    To be noted

    Additional cases are needed to delineate the epidemiology of this rare entity:
    you are welcome to submit a paper to our new Case Report section.


    The predictive value of initial cytogenetic studies in 148 adults with acute nonlymphocytic leukemia: a 12-year study (1970-1982).
    Larson RA, Le Beau MM, Vardiman JW, Testa JR, Golomb HM, Rowley JD
    Cancer genetics and cytogenetics. 1983 ; 10 (3) : 219-236.
    PMID 6627222
    NUP98 is fused to the NSD3 gene in acute myeloid leukemia associated with t(8;11)(p11.2;p15).
    Rosati R, La Starza R, Veronese A, Aventin A, Schwienbacher C, Vallespi T, Negrini M, Martelli MF, Mecucci C
    Blood. 2002 ; 99 (10) : 3857-3860.
    PMID 11986249
    Identification of four new translocations involving FGFR1 in myeloid disorders.
    Sohal J, Chase A, Mould S, Corcoran M, Oscier D, Iqbal S, Parker S, Welborn J, Harris RI, Martinelli G, Montefusco V, Sinclair P, Wilkins BS, van den Berg H, Vanstraelen D, Goldman JM, Cross NC
    Genes, chromosomes & cancer. 2001 ; 32 (2) : 155-163.
    PMID 11550283


    This paper should be referenced as such :
    Huret, JL
    Atlas Genet Cytogenet Oncol Haematol. 2005;9(2):154-155.
    Free journal version : [ pdf ]   [ DOI ]
    On line version :

    Other genes implicated (Data extracted from papers in the Atlas) [ 1 ]

    Genes NSD3

    Translocations implicated (Data extracted from papers in the Atlas)

     t(8;11)(p11;p15) NUP98/WHSC1L1

    External links

    NUP98 (11p15.4) WHSC1L1 (8p11.23)

    NUP98 (11p15.4) WHSC1L1 (8p11.23)

    Mitelman databaset(8;11)(p11;p15)
    arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9861/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
    Mitelman databaseNUP98/WHSC1L1 [MCList]  NUP98 (11p15.4) WHSC1L1 (8p11.23)
    TICdbNUP98/WHSC1L1  NUP98 (11p15.4) WHSC1L1 (8p11.23)
    REVIEW articlesautomatic search in PubMed
    Last year articlesautomatic search in PubMed
    All articlesautomatic search in PubMed

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