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

Written2005-08Sabine Strehl
Children's Cancer Research Institute, Kinderspitalgasse 6, A-1090 Vienna, Austria

(Note : for Links provided by Atlas : click)

Identity

ICD-Topo C420,C421,C424 BLOOD, BONE MARROW, & HEMATOPOIETIC SYS
ICD-Morpho 9861/3 AML with mutated NPM1; AML with mutated CEBPA; Acute myeloid leukaemia, NOS
Atlas_Id 1383

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 NameSET (SET nuclear oncogene)
Location 9q34.11
Dna / Rna 8 exons spanning 6,81 kb of genomic DNA; 2559 bp mRNA
Protein 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 NameNUP214 (nucleoporin 214kDa)
Location 9q34.13
Dna / Rna 36 exons encompassing about 108 kb of genomic DNA; 6.6 kb mRNA
Protein 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

Hybrid gene
Transcript 5' SET - 3' NUP214
  
Fusion Protein
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
  

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.

Bibliography

Identification and characterization of SET, a nuclear phosphoprotein encoded by the translocation break point in acute undifferentiated leukemia.
Adachi Y, Pavlakis GN, Copeland TD
The Journal of biological chemistry. 1994 ; 269 (3) : 2258-2262.
PMID 8294483
 
Overexpression of the nucleoporin CAN/NUP214 induces growth arrest, nucleocytoplasmic transport defects, and apoptosis.
Boer J, Bonten-Surtel J, Grosveld G
Molecular and cellular biology. 1998 ; 18 (3) : 1236-1247.
PMID 9488438
 
Interaction of cellular proteins with the leukemia specific fusion proteins DEK-CAN and SET-CAN and their normal counterpart, the nucleoporin CAN.
Fornerod M, Boer J, van Baal S, Morreau H, Grosveld G
Oncogene. 1996 ; 13 (8) : 1801-1808.
PMID 8895527
 
Effects of SET and SET-CAN on the differentiation of the human promonocytic cell line U937.
Kandilci A, Mientjes E, Grosveld G
Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 2004 ; 18 (2) : 337-340.
PMID 14671643
 
The human CAN protein, a putative oncogene product associated with myeloid leukemogenesis, is a nuclear pore complex protein that faces the cytoplasm.
Kraemer D, Wozniak RW, Blobel G, Radu A
Proceedings of the National Academy of Sciences of the United States of America. 1994 ; 91 (4) : 1519-1523.
PMID 8108440
 
Replication factor encoded by a putative oncogene, set, associated with myeloid leukemogenesis.
Nagata K, Kawase H, Handa H, Yano K, Yamasaki M, Ishimi Y, Okuda A, Kikuchi A, Matsumoto K
Proceedings of the National Academy of Sciences of the United States of America. 1995 ; 92 (10) : 4279-4283.
PMID 7753797
 
Aberrant intracellular localization of SET-CAN fusion protein, associated with a leukemia, disorganizes nuclear export.
Saito S, Miyaji-Yamaguchi M, Nagata K
International journal of cancer. Journal international du cancer. 2004 ; 111 (4) : 501-507.
PMID 15239126
 
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, van Baal S, Wiegant J, Raap A, Hagemeijer A, Grosveld G
Molecular and cellular biology. 1992 ; 12 (8) : 3346-3355.
PMID 1630450
 

Citation

This paper should be referenced as such :
Strehl, S
t(9;9)(q34;q34)
Atlas Genet Cytogenet Oncol Haematol. 2006;10(1):20-21.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Anomalies/t0909q34q34ID1383.html


Other genes implicated (Data extracted from papers in the Atlas) [ 3 ]

Genes NUP214 NUP214 SET

Translocations implicated (Data extracted from papers in the Atlas)

 t(9;9)(q34;q34) SET/NUP214

External links

SET (9q34.11) NUP214 (9q34.13)

SET (9q34.11) NUP214 (9q34.13)

Mitelman databaset(9;9)(q34;q34) [Case List]    t(9;9)(q34;q34) [Association List] Mitelman database (CGAP - NCBI)
arrayMapTopo ( C42) Morph ( 9861/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
 
Mitelman databaseSET/NUP214 [MCList]  SET (9q34.11) NUP214 (9q34.13)
TICdbSET/NUP214  SET (9q34.11) NUP214 (9q34.13)
 
Disease databaset(9;9)(q34;q34) SET/NUP214
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed


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