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t(11;20)(p15;q11) NUP98/TOP1

Written2005-03Tetsuaki Sekikawa, Junko Horiguchi-Yamada
Dept. of Oncology, Institute of DNA Mecidine, The Jikei University, School of Medicine, Tokyo, Japan

(Note : for Links provided by Atlas : click)

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
 
  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 NameNUP98 (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.
 
Gene NameTOP1 (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

Fusion Protein
 
  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

NUP98 (11p15.4) TOP1 (20q12)

NUP98 (11p15.4) TOP1 (20q12)

Mitelman databaset(11;20)(p15;q11) [Case List]    t(11;20)(p15;q11) [Association List] Mitelman database (CGAP - NCBI)
arrayMapTopo ( C42) Morph ( 9861/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMapTopo ( C42) Morph ( 9920/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMapTopo ( C42) Morph ( 9989/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
 
Mitelman databaseNUP98/TOP1 [MCList]  NUP98 (11p15.4) TOP1 (20q12)
TICdbNUP98/TOP1  NUP98 (11p15.4) TOP1 (20q12)
 
Disease databaset(11;20)(p15;q11) NUP98/TOP1
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed


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