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

Disease

acute undifferentiated leukemia (AUL)

Epidemiology

only one case described so far

Cytogenetics

Note

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)
Location
9q34.11
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)
Location
9q34.13
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

Transcript

5 SET - 3 NUP214

Description

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

Oncogenesis

SET-NUP214 leads to disorganization of nuclear export

Highly cited references

Pubmed IDYearTitleCitations
350822692022Clinico-biological features of T-cell acute lymphoblastic leukemia with fusion proteins.1
343202682021SET-NUP214 and MLL cooperatively regulate the promoter activity of the HoxA10 gene.0
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
336588382021SET-NUP214 Fusion Gene Involved Early T-Cell Precursor Acute Lymphoblastic Leukemia in Adult with B Marker Expression.0
327326892020T-Cell Lymphoblastic Lymphoma/Leukemia Presenting as a Diffuse Viral Exanthem-like Reaction: A Clinical and Histopathological Challenge.1
333273162020Prognostic significance of SET-NUP214 fusion gene in acute leukemia after allogeneic hematopoietic stem cell transplantation.3
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.3
329347802020Targeted CRM1-inhibition perturbs leukemogenic NUP214 fusion proteins and exerts anti-cancer effects in leukemia cell lines with NUP214 rearrangements.0
326644472020Disclosing the Interactome of Leukemogenic NUP98-HOXA9 and SET-NUP214 Fusion Proteins Using a Proteomic Approach.4
317558652019Chromatin-bound CRM1 recruits SET-Nup214 and NPM1c onto HOX clusters causing aberrant HOX expression in leukemia cells.9
308099882019A Rare Case of Acute Myeloid Leukemia With SET-NUP214 Fusion and Massive Hyperdiploidy.2
306695742019NUP214 in Leukemia: It's More than Transport.12
308035512019Multidisciplinary analysis of pediatric T-ALL: 9q34 gene fusions.4
301257572018Retrospective analysis of 36 fusion genes in 2479 Chinese patients of de novo acute lymphoblastic leukemia.8
292793772018Identification of fusion genes and characterization of transcriptome features in T-cell acute lymphoblastic leukemia.40
293654022017[Clinical characteristics of four SET-NUP214 positive acute leukemia patients].3
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
273177662016CCI-007, a novel small molecule with cytotoxic activity against infant leukemia with MLL rearrangements.8
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
270735322016B-cell acute lymphoblastic leukemia associated with SET-NUP214 rearrangement: A case report and review of the literature.9
259560452016SET-NUP214 rearrangement in isolation is insufficient to induce leukemia: a single center experience.4
251206412014NUP214 fusion genes in acute leukemia (Review).16
244492142014SET-NUP214 is a recurrent γδ lineage-specific fusion transcript associated with corticosteroid/chemotherapy resistance in adult T-ALL.18
245336892014Development of detection method for novel fusion gene using GeneChip exon array.7
232105732013Detection and clinical significance of gene rearrangements in Chinese patients with adult acute lymphoblastic leukemia.11
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.4
217207442012Phenotypic and genetic characterization of adult T-cell acute lymphoblastic leukemia with del(9)(q34);SET-NUP214 rearrangement.10
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
218806372011Mutations of PHF6 are associated with mutations of NOTCH1, JAK1 and rearrangement of SET-NUP214 in T-cell acute lymphoblastic leukemia.26
216793112011MRD analysis and treatment outcome in three children with SET-NUP214-positive hematological malignancies.3
220755112011T-cell acute lymphoblastic leukemia associated with complex karyotype and SET-NUP214 rearrangement: a case study and review of the literature.6
204949362010Expression of miR-196b is not exclusively MLL-driven but is especially linked to activation of HOXA genes in pediatric acute lymphoblastic leukemia.47
206823902010Molecular characterization of alternative SET-NUP214 fusion transcripts in a case of acute undifferentiated leukemia.8
191665872009SET-NUP214 fusion in acute myeloid leukemia- and T-cell acute lymphoblastic leukemia-derived cell lines.25
182994492008The recurrent SET-NUP214 fusion as a new HOXA activation mechanism in pediatric T-cell acute lymphoblastic leukemia.87

Bibliography

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

Summary

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

Citation

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)-set-nup214

External Links