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Atlas of Genetics and Cytogenetics in Oncology and Haematology OPEN ACCESS JOURNAL AT INIST-CNRS Leukaemia Section Mini Review t(11;20)(p15;q11) Tetsuaki Sekikawa, Junko Horiguchi-Yamada Division of Hematology and Oncology, Aoto Hospital, Jikei University School of Medicine, Tokyo, Japan (TS, JHY) Published in Atlas Database: March 2005 Online updated version: http://AtlasGeneticsOncology.org/Anomalies/t1120p15q11ID1155.html DOI: 10.4267/2042/38195 This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 2.0 France Licence. © 2005 Atlas of Genetics and Cytogenetics in Oncology and Haematology Identity 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 t(11;20)(p15;q11) G-banding. Either therapy-related or de novo. Table 1. Atlas Genet Cytogenet Oncol Haematol. 2005; 9(2) 161 t(11;20)(p15;q11) Sekikawa T, Horiguchi-Yamada J Leukemic cells have characteristics of type II myeloblasts with numerous granules. Several large nucleoli are seen in nuclei.(WrightGiemmsa staining)(x 1,000). domain which recognizes its binding sequences, a link domain which connects the core and catalytic domains, and the catalytic domain in the C-term. Genes involved and proteins 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. Result of the chromosomal anomaly Fusion protein Oncogenesis NUP98-TOP1 fusion protein has been proved to be leukemogenic in mice. To be noted TOP1 Note 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. Location 20q11 Protein Topoisomerase 1 is a ca.100 kDa protein with 765 amino acids; contains NLS in the N-term, a core Atlas Genet Cytogenet Oncol Haematol. 2005; 9(2) 162 t(11;20)(p15;q11) Sekikawa T, Horiguchi-Yamada J 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. Iwase S, Akiyama N, Sekikawa T, Saito S, Arakawa Y, Horiguchi-Yamada J, Yamada H. Both NUP98/TOP1 and TOP1/NUP98 transcripts are detected in a de novo AML with t(11;20)(p15;q11). Genes Chromosomes Cancer. 2003 Sep;38(1):102-5 References Ahuja HG, Felix CA, Aplan PD. The t(11;20)(p15;q11) chromosomal translocation associated with therapy-related myelodysplastic syndrome results in an NUP98-TOP1 fusion. Blood. 1999 Nov 1;94(9):3258-61 Gurevich RM, Aplan PD, Humphries RK. NUP98topoisomerase I acute myeloid leukemia-associated fusion gene has potent leukemogenic activities independent of an engineered catalytic site mutation. Blood. 2004 Aug 15;104(4):1127-36 Ahuja HG, Felix CA, Aplan PD. Potential role for DNA topoisomerase II poisons in the generation of t(11;20)(p15;q11) translocations. Genes Chromosomes Cancer. 2000 Oct;29(2):96-105 Potenza L, Sinigaglia B, Luppi M, Morselli M, Saviola A, Ferrari A, Riva G, Zucchini P, Giacobbi F, Emilia G, Temperani P, Torelli G. A t(11;20)(p15;q11) may identify a subset of nontherapy-related acute myelocytic leukemia. Cancer Genet Cytogenet. 2004 Mar;149(2):164-8 Panagopoulos I, Fioretos T, Isaksson M, Larsson G, Billström R, Mitelman F, Johansson B. Expression of NUP98/TOP1, but not of TOP1/NUP98, in a treatment-related myelodysplastic syndrome with t(10;20;11)(q24;q11;p15). Genes Chromosomes Cancer. 2002 Jun;34(2):249-54 This article should be referenced as such: Chen S, Xue Y, Chen Z, Guo Y, Wu Y, Pan J. Generation of the NUP98-TOP1 fusion transcript by the t(11;20) (p15;q11) in a case of acute monocytic leukemia. Cancer Genet Cytogenet. 2003 Jan 15;140(2):153-6 Atlas Genet Cytogenet Oncol Haematol. 2005; 9(2) Sekikawa T, Horiguchi-Yamada J. t(11;20)(p15;q11). Atlas Genet Cytogenet Oncol Haematol. 2005; 9(2):161-163. 163