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t(11;12)(p15;q13)

Clinics and Pathology

Disease treatment related acute non lymphoblastic leukemia (t-ANLL) so far
Epidemiology only one case; a female patient aged 39 yrs and treated with antitopoisomerase II for Hodgkin disease

Cytogenetics

Cytogenetics Morphological showed also a t(17;21)(q11;q22) with AML1 rearrangement

Genes involved and Proteins

Note the gene involved in 12q13 is unknown
Gene Name NUP98
Location 11p15
Dna / Rna alternate splicings
Protein contains repeated motifs and a RNA binding motif; nucleoporin: role in nucleo-cytoplasmic transport

Result of the chromosomal anomaly

Hybrid gene
Description 5 prime NUP98 - 3 prime unknown
  
Fusion Protein
Description fuses the N-term domains of NUP98 to an undetermined sequence
  

External links

Other databaset(11;12)(p15;q13) Mitelman database (CGAP - NCBI)
Other databaset(11;12)(p15;q13) 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.

Bibliography

CBFA2(AML1) translocations with novel partner chromosomes in myeloid leukemias: association with prior therapy.
Roulston D, Espinosa R 3rd, Nucifora G, Larson RA, Le Beau MM, Rowley JD
Blood. 1998 ; 92 (8) : 2879-2885.
PMID 9763573
 
NUP98 gene rearrangements in leukemia detected by fluorescence in situ hybridization (FISH).
Kobzev YN, Rowley JD
Blood. 1999 ; 94 (numero Suppl 1).
 

Contributor(s)

Written02-2000Jean-Loup Huret

Citation

This paper should be referenced as such :
Huret JL . t(11;12)(p15;q13). Atlas Genet Cytogenet Oncol Haematol. February 2000 .
URL : http://AtlasGeneticsOncology.org/Anomalies/t1112ID1185.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon May 12 18:12:55 2008


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