| 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 |
 | |
| 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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