Download Leukaemia Section t(11;20)(p15;q11) Atlas of Genetics and Cytogenetics in Oncology and Haematology

Atlas of Genetics and Cytogenetics
in Oncology and Haematology
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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)
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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.
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