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

Highly cited references

Pubmed IDYearTitleCitations
330976602020SARS-CoV-2 Orf6 hijacks Nup98 to block STAT nuclear import and antagonize interferon signaling.198
338499722021SARS-CoV-2 ORF6 Disrupts Bidirectional Nucleocytoplasmic Transport through Interactions with Rae1 and Nup98.36
341630692021Phase separation drives aberrant chromatin looping and cancer development.34
333605432021Overexpression of SARS-CoV-2 protein ORF6 dislocates RAE1 and NUP98 from the nuclear pore complex.23
323444272020CDK6 is an essential direct target of NUP98 fusion proteins in acute myeloid leukemia.21
327296692020A novel circRNA, circNUP98, a potential biomarker, acted as an oncogene via the miR-567/ PRDX3 axis in renal cell carcinoma.17
328688952020Covalent inhibition of NSD1 histone methyltransferase.14
331260482021Potential SARS-CoV-2 interactions with proteins involved in trophoblast functions - An in-silico study.12
327668742020Mechanistic insights and potential therapeutic approaches for NUP98-rearranged hematologic malignancies.12
334795422021Biomolecular condensation of NUP98 fusion proteins drives leukemogenic gene expression.11
324664802020The Nuclear Pore Complex: A Target for NS3 Protease of Dengue and Zika Viruses.11
323815792021The clinical and biological characteristics of NUP98-KDM5A in pediatric acute myeloid leukemia.10
335124582021Modeling and targeting of erythroleukemia by hematopoietic genome editing.9
334691492021A generic approach to study the kinetics of liquid-liquid phase separation under near-native conditions.8
322026362020SETD2 deficiency accelerates MDS-associated leukemogenesis via S100a9 in NHD13 mice and predicts poor prognosis in MDS.8
349036202022Phase Separation Mediates NUP98 Fusion Oncoprotein Leukemic Transformation.7
334393822021Acute Myeloid Leukemia in Children: Emerging Paradigms in Genetics and New Approaches to Therapy.7
329931152020Targeted Inhibition of the NUP98-NSD1 Fusion Oncogene in Acute Myeloid Leukemia.7
3414050620213D genome alterations associated with dysregulated HOXA13 expression in high-risk T-lineage acute lymphoblastic leukemia.6
345825592022The menin-MLL1 interaction is a molecular dependency in NUP98-rearranged AML.5
326644472020Disclosing the Interactome of Leukemogenic NUP98-HOXA9 and SET-NUP214 Fusion Proteins Using a Proteomic Approach.5
322429762020Identification of a novel NUP98-RARA fusion transcript as the 14th variant of acute promyelocytic leukemia.5
331166342020Acute Myeloid Leukemia with NUP98-RARG Gene Fusion Similar to Acute Promyelocytic Leukemia: Case Report and Literature Review.5
326207642020Mechanistic insights into chromatin targeting by leukemic NUP98-PHF23 fusion.5
350969742021Molecular Mechanism of SARS-CoVs Orf6 Targeting the Rae1-Nup98 Complex to Compete With mRNA Nuclear Export.4
337245672021Reduction of leukemic burden via bone-targeted nanoparticle delivery of an inhibitor of C-chemokine (C-C motif) ligand 3 (CCL3) signaling.4
326521112020TLR2/6 signaling promotes the expansion of premalignant hematopoietic stem and progenitor cells in the NUP98-HOXD13 mouse model of MDS.4
330332262020Molecular mechanism underlying selective inhibition of mRNA nuclear export by herpesvirus protein ORF10.4
341483722021Comprehensive analysis of differentially expressed long noncoding RNAs, miRNAs and mRNAs in breast cancer brain metastasis.3
342763832021Evidence of Omics, Immune Infiltration, and Pharmacogenomic for SENP1 in the Pan-Cancer Cohort.3
339254802021NUP-98 Rearrangements Led to the Identification of Candidate Biomarkers for Primary Induction Failure in Pediatric Acute Myeloid Leukemia.3
330194442020Alkaloid-based regimen is beneficial for acute myeloid leukemia resembling acute promyelocytic leukemia with NUP98/RARG fusion and RUNX1 mutation: A case report.3
352176262022A PRC2-Kdm5b axis sustains tumorigenicity of acute myeloid leukemia.2
345750252021NSD1: A Lysine Methyltransferase between Developmental Disorders and Cancer.2
346383012021Impact of KMT2A Rearrangement and CSPG4 Expression in Pediatric Acute Myeloid Leukemia.2
332849452020Acute erythroid leukemia is enriched in NUP98 fusions: a report from the Children's Oncology Group.2
336296552021A Non-stop identity complex (NIC) supervises enterocyte identity and protects from premature aging.2
316710532020Nuclear pore protein Nup98 is involved in replication of Rift Valley fever virus and nuclear import of virulence factor NSs.2
329983302020Evi1 Counteracts Anti-Leukemic and Stem Cell Inhibitory Effects of All-Trans Retinoic Acid on Flt3-ITD/Npm1c-Driven Acute Myeloid Leukemia Cells.2
327258422020NUP98-HOXA10hd fusion protein sustains multi-lineage haematopoiesis of lineage-committed progenitors in transplant setting.2
323437152020The SQSTM1-NUP214 fusion protein interacts with Crm1, activates Hoxa and Meis1 genes, and drives leukemogenesis in mice.2
352583302022Nup98 Is Subverted from Annulate Lamellae by Hepatitis C Virus Core Protein to Foster Viral Assembly.1
350088352021Curcumin as an Epigenetic Therapeutic Agent in Myelodysplastic Syndromes (MDS).1
352897422022Nup98-dependent transcriptional memory is established independently of transcription.1
346274232021[Clinical Characteristics and Prognosis of Adult Acute Myeloid Leukemia with NUP98 Gene Rearrangement].1
343212402021Mutant Idh2 Cooperates with a NUP98-HOXD13 Fusion to Induce Early Immature Thymocyte Precursor ALL.1
350739462022SMARCA5 interacts with NUP98-NSD1 oncofusion protein and sustains hematopoietic cells transformation.1
328158762021NUP98-NSD1 Driven MDS/MPN in Childhood Masquerading as JMML.1
348774912021TIFAB accelerates MLL-AF9-Induced acute myeloid leukemia through upregulation of HOXA9.1
337840312021Mixed phenotype acute leukemia in a child associated with a NUP98-NSD1 fusion and NRAS p.Gly61Arg mutation.1
338368352021Profiling of somatic mutations and fusion genes in acute myeloid leukemia patients with FLT3-ITD or FLT3-TKD mutation at diagnosis reveals distinct evolutionary patterns.1
338329212021Clinical impact of genomic characterization of 15 patients with acute megakaryoblastic leukemia-related malignancies.1
337893752021[Application of transcriptome sequencing and fusion genes analysis in the diagnosis of myeloid leukemia with normal karyotype].1
328182492020NUP98 rearrangement in B lymphoblastic leukemia with hyperdiploidy.1
359709382022Structural basis for Sarbecovirus ORF6 mediated blockage of nucleocytoplasmic transport.0
359270232022Detection of a GLIS3 fusion in an infant with AML refractory to chemotherapy.0
352584012022Adult acute myeloid leukemia patients with NUP98 rearrangement have frequent cryptic translocations and unfavorable outcome.0
354212562022Identification of a recurrent fusion NUP98-RARG in acute myeloid leukaemia resembling acute promyelocytic leukaemia.0
351678942022Distinct pathologic feature of myeloid neoplasm with t(v;11p15); NUP98 rearrangement.0
359230962022Tau-FG-nucleoporin98 interaction and impaired nucleocytoplasmic transport in Alzheimer's disease.0
359151432022High-resolution structural variant profiling of myelodysplastic syndromes by optical genome mapping uncovers cryptic aberrations of prognostic and therapeutic significance.0
355444582022A short report of novel RARG-HNRNPM fusion gene in resembling acute promyelocytic leukemia.0
355665032022Genetic Characteristics According to Subgroup of Acute Myeloid Leukemia with Myelodysplasia-Related Changes.0
353195052022A Novel NUP98/RARG Gene Fusion in Pediatric Acute Myeloid Leukemia Resembling Acute Promyelocytic Leukemia.0
354088552022Phosphorylation but Not Oligomerization Drives the Accumulation of Tau with Nucleoporin Nup98.0
353146682022Atomic resolution dynamics of cohesive interactions in phase-separated Nup98 FG domains.0
351071312022Misregulation of Nucleoporins 98 and 96 leads to defects in protein synthesis that promote hallmarks of tumorigenesis.0
357566602022Murine Models of Acute Myeloid Leukemia.0
357215022022Generation of a H9 Clonal Cell Line With Inducible Expression of NUP98-KDM5A Fusion Gene in the AAVS1 Safe Harbor Locus.0
353672082022Proteomic elucidation of the targets and primary functions of the picornavirus 2A protease.0
353816772022[A three-series case report and literature review of acute myeloid leukemia with t(7;11)(p15;p15)/NUP98-HOXA9].0
352164782022Emerging Targeted Therapy for Specific Genomic Abnormalities in Acute Myeloid Leukemia.0
346739342022A novel NUP98-JADE2 fusion in a patient with acute myeloid leukemia resembling acute promyelocytic leukemia.0
349311912021Quantification of nuclear transport inhibition by SARS-CoV-2 ORF6 using a broadly applicable live-cell dose-response pipeline.0
343996522021Identification and genetic characterization of a NUP98-HHEX molecular rearrangement in a pediatric acute myeloid leukemia.0
351875642022Decoupling SARS-CoV-2 ORF6 localization and interferon antagonism.0
347097392021Targeting miR-126 disrupts maintenance of myelodysplastic syndrome stem and progenitor cells.0
346803322021Molecular Signature Expands the Landscape of Driver Negative Thyroid Cancers.0
341853912021Acquisition of a rare NUP98-BPTF fusion gene associated with recurrence of acute myeloid leukemia.0
353391912022Knockdown of FLT4, Nup98, and Nup205 Cellular Genes Effectively Suppresses the Reproduction of Influenza Virus Strain A/WSN/1933 (H1N1) In vitro.0
344317852021HBO1-MLL interaction promotes AF4/ENL/P-TEFb-mediated leukemogenesis.0
325146252021Faggot cells in acute myeloid leukemia with t(7;11)(p15;p15) and NUP98-HOXA9 fusion.0
342454962021Pediatric acute myeloid leukemia co-expressing FLT3/ITD and NUP98/NSD1 treated with gilteritinib plus allogenic peripheral blood stem cell transplantation: A case report.0
343597592021Cell-Extrinsic Differentiation Block Mediated by EphA3 in Pre-Leukaemic Thymus Contributes to Disease Progression.0
348310742021The Retinoblastoma Tumor Suppressor Is Required for the NUP98-HOXA9-Induced Aberrant Nuclear Envelope Phenotype.0
340011052021First case report of a NUP98-PMX1 rearrangement in de novo acute myeloid leukemia and literature review.0
334806542021Abnormally Hypersegmented Neutrophilia in Pediatric Acute Myeloid Leukemia Associated With t(2;11)(q31;p15) and NUP98 Rearrangement.0
343837402021A genetic screen in Drosophila uncovers the multifaceted properties of the NUP98-HOXA9 oncogene.0
334096212021Clinical, biological, and prognostic implications of SF3B1 co-occurrence mutations in very low/low- and intermediate-risk MDS patients.0
335363672021The First Korean Case of NUP98-NSD1 and a Novel SNRK-ETV6 Fusion in a Pediatric Therapy-related Acute Myeloid Leukemia Patient Detected by Targeted RNA Sequencing.0
343841542021[Analysis of fusion gene expression in acute myeloid leukemia].0
334795432021Seeking commonalities in fusion proteins of NUP98.0
335483092021Prevalence and functionality of intrinsic disorder in human FG-nucleoporins.0
324992422021Epigenetic and functional changes imposed by NUP98-HOXA9 in a genetically engineered model of chronic myeloid leukemia progression.0
333174362020Hyperleukocytosis predicts inferior clinical outcome in pediatric acute myeloid leukemia.0
328310082020A new case of myelodysplastic syndrome associated with t(3;3)(q21;q26) and inv(11)(p15q22).0
328109692020[Acute myeloid leukemia with co-expression of TEL-ABL1 and NUP98-HOXA9 fusion genes: a case report and literature review].0
327027142020Interactome of SARS-CoV-2 / nCoV19 modulated host proteins with computationally predicted PPIs.0
322724342020Characterizing false-positive fluorescence in situ hybridization results by mate-pair sequencing in a patient with chronic myeloid leukemia and progression to myeloid blast crisis.0
326115752020NUP98 and KMT2A: usually the bride rather than the bridesmaid.0


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)