t(11;17)(p15;q21) NUP98/?

2015-12-01   Nicolas Duployez , Stéphanie Struski , Guillaume Grzych , Catherine Roche-Lestienne , Frédérique Payet 

1.Institut de Génétique Médicale, Hôpital Jeanne de Flandre, CHRU Lille (FP, ND, GG, CRL); Institut Universitaire du Cancer Toulouse - Oncopole, Laboratoire d hématologie /Plateau Technique Hématologie-Oncologie, 31059 TOULOUSE Cedex 9 (SS). struski.stephanie@iuct-oncopole.fr; frederique.payet@chru-lille.fr; guillaume.grzych@chru-lille.fr; catherine.roche@chru-lille.fr


Review on t(11;17)(p15;q21) NUP98/?, with data on clinics, and the genes involved.

Clinics and Pathology


Myelodysplastic syndromes (MDS) and acute myeloid leukemias (AML)


3 cases of paediatric AML (sex ratio 1M/2F) with the t(11;17)(p15;q21) have been reported , two AML M4 cases (aged 3 and 4 years), and one AML M0 (aged 18 years). No treatment and evolution data available (Nishiyama et al., 1999; Kerndrup and Kjeldsen 2001; Forestier et al., 2003).
One MDS case with isolated t(11;17)(p15;q21) after neuroblastoma chemotherapy has been reported, a 8 years old girl. This patient achieved complete remission after bone marrow transplantation, but no data about induction treatment and response were reported. The patient died of this neuroblastoma ((Nishiyama et al., 1999).
In adult, only one case reported this translocation implicating NUP98 , a 86 year old man. Blasts CD34-, HLA-DR+ (78%), CD33+ (99%), CD13+ (99%), CD14+ (98%), CD15+ (95%). Because of high advanced age, the treatment was based on transfusions and HYDREA to control leukocytosis and cytopenias with no complete remission (Duployez et al., 2015).


Atlas Image
Implication of NUP98 in the t(11;17) by FISH, using RP11-120E20 (3NUP98, in red) and RP11-438N5 (5NUP98, in green) BAC probes. Arrows indicate the der(11) and der(17) chromosomes.


RP11-120E20 and RP11-438N5

Genes Involved and Proteins

NUP98 is implicated in structural chromosome abnormalities with numerous patners.
Gene name
NUP98 (nucleoporin 98 kDa)
Protein description
Nucleoporin 98, is a 98 kDa component of the nuclear pore complex involved in nucleo-cytoplasmic transport.

Result of the Chromosomal Anomaly


5 NUP98 - 3 partner


Pubmed IDLast YearTitleAuthors
127520972003Cytogenetic abnormalities in childhood acute myeloid leukaemia: a Nordic series comprising all children enrolled in the NOPHO-93-AML trial between 1993 and 2001.Forestier E et al
111653152001Acute leukemia cytogenetics: an evaluation of combining G-band karyotyping with multi-color spectral karyotyping.Kerndrup GB et al
10502319199911p15 translocations involving the NUP98 gene in childhood therapy-related acute myeloid leukemia/myelodysplastic syndrome.Nishiyama M et al


Atlas Image
Partial GTG-banding karyotype of the t(11;17)(p15;q21).


Nicolas Duployez ; Stéphanie Struski ; Guillaume Grzych ; Catherine Roche-Lestienne ; Frédérique Payet

t(11;17)(p15;q21) NUP98/?

Atlas Genet Cytogenet Oncol Haematol. 2015-12-01

Online version: http://atlasgeneticsoncology.org/haematological/1233/t(11;17)(p15;q21)

External Links