t(9;9)(q34;q34) SET/NUP214
2005-08-01 Sabine Strehl Affiliation1.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 ID | Year | Title | Citations |
|---|---|---|---|
| 30669574 | 2019 | NUP214 in Leukemia: It's More than Transport. | 148 |
| 31755865 | 2019 | Chromatin-bound CRM1 recruits SET-Nup214 and NPM1c onto HOX clusters causing aberrant HOX expression in leukemia cells. | 95 |
| 32664447 | 2020 | Disclosing the Interactome of Leukemogenic NUP98-HOXA9 and SET-NUP214 Fusion Proteins Using a Proteomic Approach. | 86 |
| 27114368 | 2016 | Leukemia-Associated Nup214 Fusion Proteins Disturb the XPO1-Mediated Nuclear-Cytoplasmic Transport Pathway and Thereby the NF-κB Signaling Pathway. | 82 |
| 37833906 | 2023 | Unusual Presentation of SET::NUP214-Associated Concomitant Hematological Neoplasm in a Child-Diagnostic and Treatment Struggle. | 79 |
| 27317766 | 2016 | CCI-007, a novel small molecule with cytotoxic activity against infant leukemia with MLL rearrangements. | 77 |
| 32934780 | 2020 | Targeted CRM1-inhibition perturbs leukemogenic NUP214 fusion proteins and exerts anti-cancer effects in leukemia cell lines with NUP214 rearrangements. | 72 |
| 27613868 | 2016 | The Oncogenic Fusion Proteins SET-Nup214 and Sequestosome-1 (SQSTM1)-Nup214 Form Dynamic Nuclear Bodies and Differentially Affect Nuclear Protein and Poly(A)+ RNA Export. | 66 |
| 35082269 | 2022 | Clinico-biological features of T-cell acute lymphoblastic leukemia with fusion proteins. | 60 |
| 25120641 | 2014 | NUP214 fusion genes in acute leukemia (Review). | 52 |
| 18299449 | 2008 | The recurrent SET-NUP214 fusion as a new HOXA activation mechanism in pediatric T-cell acute lymphoblastic leukemia. | 48 |
| 20494936 | 2010 | Expression of miR-196b is not exclusively MLL-driven but is especially linked to activation of HOXA genes in pediatric acute lymphoblastic leukemia. | 44 |
| 38571499 | 2024 | NUP214 fusion genes in acute leukemias: genetic characterization of rare cases. | 41 |
| 38145892 | 2024 | NUP214 Rearrangements in Leukemia Patients: A Case Series From a Single Institution. | 36 |
| 29279377 | 2018 | Identification of fusion genes and characterization of transcriptome features in T-cell acute lymphoblastic leukemia. | 36 |
| 24533689 | 2014 | Development of detection method for novel fusion gene using GeneChip exon array. | 36 |
| 33327316 | 2020 | Prognostic significance of SET-NUP214 fusion gene in acute leukemia after allogeneic hematopoietic stem cell transplantation. | 31 |
| 32874588 | 2020 | Secondary 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. | 29 |
| 33658838 | 2021 | SET-NUP214 Fusion Gene Involved Early T-Cell Precursor Acute Lymphoblastic Leukemia in Adult with B Marker Expression. | 27 |
| 21880637 | 2011 | Mutations of PHF6 are associated with mutations of NOTCH1, JAK1 and rearrangement of SET-NUP214 in T-cell acute lymphoblastic leukemia. | 25 |
| 34384151 | 2021 | [Analysis of the clinical characteristics of 24 cases of hematological malignancies with SET-NUP214 fusion gene]. | 24 |
| 27073532 | 2016 | B-cell acute lymphoblastic leukemia associated with SET-NUP214 rearrangement: A case report and review of the literature. | 20 |
| 29365402 | 2017 | [Clinical characteristics of four SET-NUP214 positive acute leukemia patients]. | 19 |
| 37901324 | 2023 | The outcome of acute leukemia patients with SET-NUP214 fusion after allogeneic stem cell transplantation. | 16 |
| 19166587 | 2009 | SET-NUP214 fusion in acute myeloid leukemia- and T-cell acute lymphoblastic leukemia-derived cell lines. | 12 |
| 30809988 | 2019 | A Rare Case of Acute Myeloid Leukemia With SET-NUP214 Fusion and Massive Hyperdiploidy. | 10 |
| 39634129 | 2025 | SET-NUP214-induced hypermethylation landscape promotes abnormal overexpression of HOXC cluster genes in acute megakaryoblastic leukemia. | 5 |
| 34320268 | 2021 | SET-NUP214 and MLL cooperatively regulate the promoter activity of the HoxA10 gene. | 0 |
| 24449214 | 2014 | SET-NUP214 is a recurrent γδ lineage-specific fusion transcript associated with corticosteroid/chemotherapy resistance in adult T-ALL. | 0 |
| 37096505 | 2023 | [Clinical Analysis of SET-NUP214 Fusion Gene Positive Patients with Acute Leukemia]. | 0 |
| 21720744 | 2012 | Phenotypic and genetic characterization of adult T-cell acute lymphoblastic leukemia with del(9)(q34);SET-NUP214 rearrangement. | 0 |
| 22075511 | 2011 | T-cell acute lymphoblastic leukemia associated with complex karyotype and SET-NUP214 rearrangement: a case study and review of the literature. | 0 |
| 37516964 | 2023 | Phase-separated nuclear bodies of nucleoporin fusions promote condensation of MLL1/CRM1 and rearrangement of 3D genome structure. | 0 |
| 36546746 | 2022 | A Case of Acute Myeloid Leukemia with Myelodysplasia-Related Changes, SET-NUP214 Fusion, and Complex Karyotype. | 0 |
| 25956045 | 2016 | SET-NUP214 rearrangement in isolation is insufficient to induce leukemia: a single center experience. | 0 |
| 36321418 | 2023 | Blast phase of chronic myeloid leukemia with concurrent BCR::ABL1 and SET::NUP214: A report of two cases. | 0 |
| 37032136 | 2023 | [Allogeneic hematopoietic stem cell transplantation in acute leukemia patients with the SET-NUP214 fusion gene: Efficacy and survival analysis]. | 0 |
| 34753234 | 2021 | [SET-NUP214-positive pediatric acute myeloid leukemia: a report of two cases]. | 0 |
| 22095169 | 2012 | Detection 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. | 0 |
| 30803551 | 2019 | Multidisciplinary analysis of pediatric T-ALL: 9q34 gene fusions. | 0 |
| 23114116 | 2012 | [Expression of SET-NUP214 fusion gene in patients with T-cell acute lymphoblastic leukemia and its clinical significance]. | 0 |
| 39233093 | 2024 | Chidamide maintenance therapy after allo-HSCT in SET-NUP214 fusion positive T-ALL patients: A report of two cases. | 0 |
| 20682390 | 2010 | Molecular characterization of alternative SET-NUP214 fusion transcripts in a case of acute undifferentiated leukemia. | 0 |
| 30125757 | 2018 | Retrospective analysis of 36 fusion genes in 2479 Chinese patients of de novo acute lymphoblastic leukemia. | 0 |
| 23210573 | 2013 | Detection and clinical significance of gene rearrangements in Chinese patients with adult acute lymphoblastic leukemia. | 0 |
| 27161658 | 2016 | Genome-Wide Single-Nucleotide Polymorphism Array Analysis Improves Prognostication of Acute Lymphoblastic Leukemia/Lymphoma. | 0 |
| 21679311 | 2011 | MRD analysis and treatment outcome in three children with SET-NUP214-positive hematological malignancies. | 0 |
| 32732689 | 2020 | T-Cell Lymphoblastic Lymphoma/Leukemia Presenting as a Diffuse Viral Exanthem-like Reaction: A Clinical and Histopathological Challenge. | 0 |
| 22169284 | 2011 | [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]. | 0 |
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 8294483 | 1994 | Identification and characterization of SET, a nuclear phosphoprotein encoded by the translocation break point in acute undifferentiated leukemia. | Adachi Y et al |
| 9488438 | 1998 | Overexpression of the nucleoporin CAN/NUP214 induces growth arrest, nucleocytoplasmic transport defects, and apoptosis. | Boer J et al |
| 8895527 | 1996 | Interaction 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 |
| 14671643 | 2004 | Effects of SET and SET-CAN on the differentiation of the human promonocytic cell line U937. | Kandilci A et al |
| 8108440 | 1994 | The 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 |
| 7753797 | 1995 | Replication factor encoded by a putative oncogene, set, associated with myeloid leukemogenesis. | Nagata K et al |
| 15239126 | 2004 | Aberrant intracellular localization of SET-CAN fusion protein, associated with a leukemia, disorganizes nuclear export. | Saito S et al |
| 1630450 | 1992 | Can, 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
