Written | 2005-03 | Tetsuaki Sekikawa, Junko Horiguchi-Yamada |
Dept. of Oncology, Institute of DNA Mecidine, The Jikei University, School of Medicine, Tokyo, Japan |
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 |
ICD-Morpho | 9920/3 Therapy-related myeloid neoplasms |
ICD-Morpho | 9989/3 Myelodysplastic syndrome, unclassifiable |
Atlas_Id | 1155 |
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t(11;20)(p15;q11) G-banding.. | |
Clinics and Pathology |
Disease | Acute myelogenous leukemia, Therapy-related MDS (RAEB, RAEB-t) |
Phenotype / cell stem origin | myeloid, positive for CD34, 33, 13, HLA-DR. |
Etiology | either therapy-related or de novo |
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Table 1 | |
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Leukemic cells have characteristics of type II myeloblasts with numerous granules. Several large nucleoli are seen in nuclei.(Wright-Giemmsa staining)(x 1,000) | |
Genes involved and Proteins |
Gene Name | NUP98 (nucleoporin 98 kDa) |
Location | 11p15.4 |
Note | The NUP98 gene is fused to a number of genes through chromosomal translocation. The breakpoints in NUP98 gene span six introns (intron 9-14). Of particular notice, one type of translocation occurs in a specific intron. As for t(11;20), all four cases have the breakpoint in intron 13 of NUP98 gene. |
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Gene Name | TOP1 (topoisomerase (DNA) 1) |
Location | 20q12 |
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Protein | Topoisomerase 1 is a ca.100 kDa protein with 765 amino acids; contains NLS in the N-term, a core domain which recognizes its binding sequences, a link domain which connects the core and catalytic domains, and the catalytic domain in the C-term. |
Result of the chromosomal anomaly |
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Structural diagrams of NUP98, TOP1, and fused chimeras. Fused protein has N-terminal of NUP98, which contains two FG repeats, and the core, link and catalytic domains of TOP1. Gene product of TOP1/NUP98 (150kD) has been demonstrated, but the fused protein of TOP1/NUP98 has not been examined. | |
Oncogenesis | NUP98-TOP1 fusion protein has been proved to be leukemogenic in mice. |
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. Primer sets for RT-PCR and genomic PCR have been published in References. | |
Case Report | Translocation t(11;20)(p15;q11) detected in AML M0: A case report |
Bibliography |
Potential role for DNA topoisomerase II poisons in the generation of t(11;20)(p15;q11) translocations. |
Ahuja HG, Felix CA, Aplan PD |
Genes, chromosomes & cancer. 2000 ; 29 (2) : 96-105. |
PMID 10959088 |
Generation of the NUP98-TOP1 fusion transcript by the t(11;20) (p15;q11) in a case of acute monocytic leukemia. |
Chen S, Xue Y, Chen Z, Guo Y, Wu Y, Pan J |
Cancer genetics and cytogenetics. 2003 ; 140 (2) : 153-156. |
PMID 12645654 |
NUP98-topoisomerase I acute myeloid leukemia-associated fusion gene has potent leukemogenic activities independent of an engineered catalytic site mutation. |
Gurevich RM, Aplan PD, Humphries RK |
Blood. 2004 ; 104 (4) : 1127-1136. |
PMID 15100157 |
Both NUP98/TOP1 and TOP1/NUP98 transcripts are detected in a de novo AML with t(11;20)(p15;q11). |
Iwase S, Akiyama N, Sekikawa T, Saito S, Arakawa Y, Horiguchi-Yamada J, Yamada H |
Genes, chromosomes & cancer. 2003 ; 38 (1) : 102-105. |
PMID 12874791 |
Expression of NUP98/TOP1, but not of TOP1/NUP98, in a treatment-related myelodysplastic syndrome with t(10;20;11)(q24;q11;p15). |
Panagopoulos I, Fioretos T, Isaksson M, Larsson G, Billström R, Mitelman F, Johansson B |
Genes, chromosomes & cancer. 2002 ; 34 (2) : 249-254. |
PMID 11979559 |
A t(11;20)(p15;q11) may identify a subset of nontherapy-related acute myelocytic leukemia. |
Potenza L, Sinigaglia B, Luppi M, Morselli M, Saviola A, Ferrari A, Riva G, Zucchini P, Giacobbi F, Emilia G, Temperani P, Torelli G |
Cancer genetics and cytogenetics. 2004 ; 149 (2) : 164-168. |
PMID 15036893 |
Citation |
This paper should be referenced as such : |
Sekikawa, T ; Horiguchi-Yamada, J |
t(11;20)(p15;q11) |
Atlas Genet Cytogenet Oncol Haematol. 2005;9(2):160-162. |
Free journal version : [ pdf ] [ DOI ] |
On line version : http://AtlasGeneticsOncology.org/Anomalies/t1120p15q11ID1155.html |
Other genes implicated (Data extracted from papers in the Atlas) [ 2 ] |
Genes | NUP98 | TOP1 |
Translocations implicated (Data extracted from papers in the Atlas) |
t(11;20)(p15;q11) NUP98/TOP1 | |
External links |
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 Dec 14 18:26:32 CET 2020 |
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