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

Written2015-12Frédérique Payet, Nicolas Duployez, Stéphanie Struski, Guillaume Grzych, Catherine Roche-Lestienne
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).;;;

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

Keywords chromosome 11 ; chromosome 17; translocation; leukemia; NUP98

(Note : for Links provided by Atlas : click)


ICD-Morpho 9861/3 AML with mutated NPM1; AML with mutated CEBPA; Acute myeloid leukaemia, NOS
ICD-Morpho 9920/3 Therapy-related myeloid neoplasms
ICD-Morpho 9989/3 Myelodysplastic syndrome, unclassifiable
Atlas_Id 1233
  Partial GTG-banding karyotype of the t(11;17)(p15;q21).

Clinics and Pathology

Disease Myelodysplastic syndromes (MDS) and acute myeloid leukemias (AML)
Clinics 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).


  Implication of NUP98 in the t(11;17) by FISH, using RP11-120E20 (3'NUP98, in red) and RP11-438N5 (5'NUP98, in green) BAC probes. Arrows indicate the der(11) and der(17) chromosomes.
Probes RP11-120E20 and RP11-438N5

Genes involved and Proteins

Note NUP98 is implicated in structural chromosome abnormalities with numerous patners.
Gene NameNUP98 (nucleoporin 98 kDa)
Location 11p15.4
Protein Nucleoporin 98, is a 98 kDa component of the nuclear pore complex involved in nucleo-cytoplasmic transport.

Result of the chromosomal anomaly

Hybrid gene
Description 5' NUP98 - 3' partner

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.
Case Report t(11;17)(p15;q21) involving the NUP98 gene is a rare event in adult acute myeloid leukemia


t(11;17)(p15;q21) involving the NUP98 gene is a rare event in adult acute myeloid leukemia.
Duployez N, struski S, Roche-Lestienne C.
Atlas Genet Cytogenet Oncol Haematol. in press
Cytogenetic 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, Heim S, Blennow E, Borgström G, Holmgren G, Heinonen K, Johannsson J, Kerndrup G, Andersen MK, Lundin C, Nordgren A, Rosenquist R, Swolin B, Johansson B; Nordic Society of Paediatric Haematology and Oncology (NOPHO); Swedish Cytogenetic Leukaemia Study Group (SCLSG); NOPHO Leukaemia Cytogenetic Study Group (NLCSG).
Br J Haematol. 2003 May;121(4):566-77.
PMID 12752097
Acute leukemia cytogenetics: an evaluation of combining G-band karyotyping with multi-color spectral karyotyping.
Kerndrup GB, Kjeldsen E.
Cancer Genet Cytogenet. 2001 Jan 1;124(1):7-11.
PMID 11165315
11p15 translocations involving the NUP98 gene in childhood therapy-related acute myeloid leukemia/myelodysplastic syndrome.
Nishiyama M, Arai Y, Tsunematsu Y, Kobayashi H, Asami K, Yabe M, Kato S, Oda M, Eguchi H, Ohki M, Kaneko Y.
Genes Chromosomes Cancer. 1999 Nov;26(3):215-20.
PMID 10502319


This paper should be referenced as such :
Frdérique Payet, Nicolas Duployez, Stphanie Struski, Guillaume Grzych, Catherine Roche-Lestienne
t(11;17)(p15;q21) NUP98/?
Atlas Genet Cytogenet Oncol Haematol. 2016;20(10):534-535.
Free journal version : [ pdf ]   [ DOI ]
On line version :

Translocations implicated (Data extracted from papers in the Atlas)

 t(11;17)(p15;q21) NUP98/?

External links

Mitelman databaset(11;17)(p15;q21) [Case List]    t(11;17)(p15;q21) [Transloc-MCList] NUP98/? [Fusion-MCList]
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9861/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9920/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9989/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
REVIEW articlesautomatic search in PubMed
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