| Written | 2005-08 | Sabine Strehl |
| Children's Cancer Research Institute, Kinderspitalgasse 6, A-1090 Vienna, Austria |
| 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 Name | SET (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 Name | NUP214 (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 |
| 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 |
| 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 |
| Mitelman database | t(9;9)(q34;q34) |
| arrayMap (UZH-SIB Zurich) | Topo ( C42) Morph ( 9861/3) - [auto + random 100 samples .. if exist ] [tabulated segments] |
| Mitelman database | SET/NUP214 [MCList] SET (9q34.11) NUP214 (9q34.13) |
| TICdb | SET/NUP214 SET (9q34.11) NUP214 (9q34.13) |
| REVIEW articles | automatic search in PubMed |
| Last year articles | automatic search in PubMed |
| All articles | automatic search in PubMed |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Mon Sep 7 15:07:55 CEST 2020 |
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