Atlas of Genetics and Cytogenetics in Oncology and Haematology
t(11;20)(p15;q11)
| Identity |
 | |
| 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 |
 | |
| Table 1 | |
 | |
| 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 |
| Location | 11p15 |
| 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. |
 | |
| Gene Name | TOP1 |
| Location | 20q11 |
 | |
| 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 |
 | |
| 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. |
| External links |
| Other database | t(11;20)(p15;q11) | Mitelman database (CGAP - NCBI) | |
| Other database | t(11;20)(p15;q11) | CancerChromosomes (NCBI) |
| 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 |
| The t(11;20)(p15;q11) chromosomal translocation associated with therapy-related myelodysplastic syndrome results in an NUP98-TOP1 fusion. |
| Ahuja HG, Felix CA, Aplan PD |
| Blood. 1999 ; 94 (9) : 3258-3261. |
| PMID 10556215 |
| 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 |
| 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, Billstrm R, Mitelman F, Johansson B |
| Genes, chromosomes & cancer. 2002 ; 34 (2) : 249-254. |
| PMID 11979559 |
| 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 |
| 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 |
| 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 |
| 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 |
| Contributor(s) |
| Written | 03-2005 | Tetsuaki Sekikawa, Junko Horiguchi-Yamada |
| Dept. of Oncology, Institute of DNA Mecidine, The Jikei University, School of Medicine, Tokyo, Japan |
| Citation |
| This paper should be referenced as such : |
| Sekikawa T, Horiguchi-Yamada J . t(11;20)(p15;q11). Atlas Genet Cytogenet Oncol Haematol. March 2005 . URL : http://AtlasGeneticsOncology.org/Anomalies/t1120p15q11ID1155.html |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Mon May 12 18:13:04 2008 |
For comments and suggestions or contributions, please contact us