t(9;9)(q34;q34) SET/NUP214

2005-08-01   Sabine Strehl 

1.Childrens Cancer Research Institute, Kinderspitalgasse 6, A-1090 Vienna, Austria

Clinics and Pathology


acute undifferentiated leukemia (AUL)


only one case described so far



the only SET-NUP214 positive case described so far had a normal karyotype; on the cytogenetic level it is unclear if the SET-NUP214 fusion is generated by a t(9;9)(q34;q34) or an interstitial deletion at 9q34; the latter is supported by the centromere-telomere orientation of both genes and their local order: centromere-SET-NUP214-telomere

Cytogenetics morphological

the single case described so far had a normal karyotype; may be overlooked

Genes Involved and Proteins

Gene name
SET (SET nuclear oncogene)
Dna rna description
8 exons spanning 6,81 kb of genomic DNA; 2559 bp mRNA
Protein description
two isoforms; isoform 1 (TAF1 alpha) 290 amino acids, 33.5 kDa; isoform 2 (TAF1 beta) - 277 amino acids, 23.1 kDa; DNA associated, transcription factor; multitasking protein, involved in apoptosis, transcription, nucleosome assembly and histone binding; cytoplasmic and nuclear; in the cytoplasm, found both in the cytosol and associated with the endoplasmic reticulum
Gene name
NUP214 (nucleoporin 214kDa)
Dna rna description
36 exons encompassing about 108 kb of genomic DNA; 6.6 kb mRNA
Protein description
2090 amino acids, 213.8 kDa; forms homodimers, contains two leucine zipper dimerization domains, and FG repeats at the C-terminus, which are homologous to those observed in other members of the nucleoporin family; expressed in thymus, spleen, bone marrow, kidney, brain and testis, but hardly in all other tissues or in whole embryos during development; may serve as a docking site in the receptor-mediated import of substrates across the nuclear pore complex (NPC); intracellular localization, cytoplasmic face of the NPC

Result of the Chromosomal Anomaly


5 SET - 3 NUP214


the SET-NUP214 fusion protein consists of almost the whole SET protein fused to the C-terminus of NUP214; 155 kDa


SET-NUP214 leads to disorganization of nuclear export

Highly cited references

Pubmed IDYearTitleCitations
182994492008The recurrent SET-NUP214 fusion as a new HOXA activation mechanism in pediatric T-cell acute lymphoblastic leukemia.90
204949362010Expression of miR-196b is not exclusively MLL-driven but is especially linked to activation of HOXA genes in pediatric acute lymphoblastic leukemia.48
292793772018Identification of fusion genes and characterization of transcriptome features in T-cell acute lymphoblastic leukemia.44
218806372011Mutations of PHF6 are associated with mutations of NOTCH1, JAK1 and rearrangement of SET-NUP214 in T-cell acute lymphoblastic leukemia.26
191665872009SET-NUP214 fusion in acute myeloid leukemia- and T-cell acute lymphoblastic leukemia-derived cell lines.25
244492142014SET-NUP214 is a recurrent γδ lineage-specific fusion transcript associated with corticosteroid/chemotherapy resistance in adult T-ALL.19
251206412014NUP214 fusion genes in acute leukemia (Review).17
306695742019NUP214 in Leukemia: It's More than Transport.14
271143682016Leukemia-Associated Nup214 Fusion Proteins Disturb the XPO1-Mediated Nuclear-Cytoplasmic Transport Pathway and Thereby the NF-κB Signaling Pathway.14
271616582016Genome-Wide Single-Nucleotide Polymorphism Array Analysis Improves Prognostication of Acute Lymphoblastic Leukemia/Lymphoma.12
232105732013Detection and clinical significance of gene rearrangements in Chinese patients with adult acute lymphoblastic leukemia.11
217207442012Phenotypic and genetic characterization of adult T-cell acute lymphoblastic leukemia with del(9)(q34);SET-NUP214 rearrangement.11
317558652019Chromatin-bound CRM1 recruits SET-Nup214 and NPM1c onto HOX clusters causing aberrant HOX expression in leukemia cells.10
270735322016B-cell acute lymphoblastic leukemia associated with SET-NUP214 rearrangement: A case report and review of the literature.10
273177662016CCI-007, a novel small molecule with cytotoxic activity against infant leukemia with MLL rearrangements.9
206823902010Molecular characterization of alternative SET-NUP214 fusion transcripts in a case of acute undifferentiated leukemia.9
301257572018Retrospective analysis of 36 fusion genes in 2479 Chinese patients of de novo acute lymphoblastic leukemia.8
276138682016The Oncogenic Fusion Proteins SET-Nup214 and Sequestosome-1 (SQSTM1)-Nup214 Form Dynamic Nuclear Bodies and Differentially Affect Nuclear Protein and Poly(A)+ RNA Export.8
245336892014Development of detection method for novel fusion gene using GeneChip exon array.7
220755112011T-cell acute lymphoblastic leukemia associated with complex karyotype and SET-NUP214 rearrangement: a case study and review of the literature.7
328745882020Secondary donor-derived humanized CD19-modified CAR-T cells induce remission in relapsed/refractory mixed phenotype acute leukemia after allogeneic hematopoietic stem cell transplantation: a case report.6
326644472020Disclosing the Interactome of Leukemogenic NUP98-HOXA9 and SET-NUP214 Fusion Proteins Using a Proteomic Approach.5
259560452016SET-NUP214 rearrangement in isolation is insufficient to induce leukemia: a single center experience.5
231141162012[Expression of SET-NUP214 fusion gene in patients with T-cell acute lymphoblastic leukemia and its clinical significance].5
220951692012Detection of SET-NUP214 rearrangement using multiplex reverse transcriptase-polymerase chain reaction (RT-PCR) in acute leukemias: a case report and literature review on a Korean case series.5
333273162020Prognostic significance of SET-NUP214 fusion gene in acute leukemia after allogeneic hematopoietic stem cell transplantation.4
308035512019Multidisciplinary analysis of pediatric T-ALL: 9q34 gene fusions.4
308099882019A Rare Case of Acute Myeloid Leukemia With SET-NUP214 Fusion and Massive Hyperdiploidy.3
293654022017[Clinical characteristics of four SET-NUP214 positive acute leukemia patients].3
221692842011[Gene rearrangement pattern of immunoglobulin and T-cell receptor (Ig/TR) and its clinical characteristics in children with SET-NUP214 fusion gene-positive leukemia/lymphoma].3
216793112011MRD analysis and treatment outcome in three children with SET-NUP214-positive hematological malignancies.3
350822692022Clinico-biological features of T-cell acute lymphoblastic leukemia with fusion proteins.1
327326892020T-Cell Lymphoblastic Lymphoma/Leukemia Presenting as a Diffuse Viral Exanthem-like Reaction: A Clinical and Histopathological Challenge.1
347532342021[SET-NUP214-positive pediatric acute myeloid leukemia: a report of two cases].0
343841512021[Analysis of the clinical characteristics of 24 cases of hematological malignancies with SET-NUP214 fusion gene].0
343202682021SET-NUP214 and MLL cooperatively regulate the promoter activity of the HoxA10 gene.0
329347802020Targeted CRM1-inhibition perturbs leukemogenic NUP214 fusion proteins and exerts anti-cancer effects in leukemia cell lines with NUP214 rearrangements.0
336588382021SET-NUP214 Fusion Gene Involved Early T-Cell Precursor Acute Lymphoblastic Leukemia in Adult with B Marker Expression.0


Pubmed IDLast YearTitleAuthors
82944831994Identification and characterization of SET, a nuclear phosphoprotein encoded by the translocation break point in acute undifferentiated leukemia.Adachi Y et al
94884381998Overexpression of the nucleoporin CAN/NUP214 induces growth arrest, nucleocytoplasmic transport defects, and apoptosis.Boer J et al
88955271996Interaction of cellular proteins with the leukemia specific fusion proteins DEK-CAN and SET-CAN and their normal counterpart, the nucleoporin CAN.Fornerod M et al
146716432004Effects of SET and SET-CAN on the differentiation of the human promonocytic cell line U937.Kandilci A et al
81084401994The human CAN protein, a putative oncogene product associated with myeloid leukemogenesis, is a nuclear pore complex protein that faces the cytoplasm.Kraemer D et al
77537971995Replication factor encoded by a putative oncogene, set, associated with myeloid leukemogenesis.Nagata K et al
152391262004Aberrant intracellular localization of SET-CAN fusion protein, associated with a leukemia, disorganizes nuclear export.Saito S et al
16304501992Can, a putative oncogene associated with myeloid leukemogenesis, may be activated by fusion of its 3' half to different genes: characterization of the set gene.von Lindern M et al


Fusion gene

SET/NUP214 SET (9q34.11) NUP214 (9q34.13) M del(9)(q34) del(9)(q34q34) t(9;9)(q34;q34)|SET/NUP214 SET (9q34.11) NUP214 (9q34.13) TIC


Sabine Strehl

t(9;9)(q34;q34) SET/NUP214

Atlas Genet Cytogenet Oncol Haematol. 2005-08-01

Online version: http://atlasgeneticsoncology.org/haematological/1383/t(9;9)(q34;q34)