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t(7;11)(p15;p15)

Identity

 
  t(7;11)(p15;p15) G-banding - Courtesy Diane H. Norback, Eric B. Johnson, and Sara Morrison-Delap, UW Cytogenetic Services

Clinics and Pathology

Disease ANLL mostly; occasionally: CML-like cases without t(9;22), or CML in blast crisis (with t(9;22))
Phenotype / cell stem origin M2 or M4 ANLL mainly; involving maturing leukemic cells in ANLL cases, might affect trilineage progenitors in CML-like cases
Epidemiology most cases have been found in Japan; balanced sex ratio
Cytology auer rods; low alkaline phosphatase scores; CML like blood features
Prognosis CR in most cases; but patients tend to relapse; mean survival: 15 mths

Cytogenetics

Additional anomalies most often (90%) none

Genes involved and Proteins

Gene Name HOXA9
Location 7p15
Protein encodes a class I homeodomain protein potentially involved in myeloid differentiation
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' NUP98 - 3' HOXA9
  
Fusion Protein
Description fuses the N-term GLFG repeat domains of NUP98 to the HOXA9 3' homeobox
Oncogenesis may promote leukaemogenesis through inhibition of HOXA9-mediated terminal differentiation and/or aberrant nucleocytoplasmic transport
  

External links

Other databaset(7;11)(p15;p15) Mitelman database (CGAP - NCBI)
Other databaset(7;11)(p15;p15) CancerChromosomes (NCBI)

Bibliography

Reciprocal translocation involving the short arms of chromosomes 7 and 11, t(7p-;11p+), associated with myeloid leukemia with maturation.
Sato Y, Abe S, Mise K, Sasaki M, Kamada N, Kouda K, Musashi M, Saburi Y, Horikoshi A, Minami Y
Blood. 1987 ; 70 (5) : 1654-1658.
PMID 3478104
 
Two additional cases of acute myeloid leukemia with t(7;11)(p15;p15) having low neutrophil alkaline phosphatase scores.
Fujimura T, Ohyashiki K, Ohyashiki JH, Kawakubo K, Iwabuchi A, Kodama A, Toyama K
Cancer genetics and cytogenetics. 1993 ; 68 (2) : 143-146.
PMID 8353806
 
The t(7;11)(p15;p15) translocation in acute myeloid leukaemia fuses the genes for nucleoporin NUP98 and class I homeoprotein HOXA9.
Borrow J, Shearman AM, Stanton VP Jr, Becher R, Collins T, Williams AJ, Dubˆ© I, Katz F, Kwong YL, Morris C, Ohyashiki K, Toyama K, Rowley J, Housman DE
Nature genetics. 1996 ; 12 (2) : 159-167.
PMID 8563754
 
Fusion of the nucleoporin gene NUP98 to HOXA9 by the chromosome translocation t(7;11)(p15;p15) in human myeloid leukaemia.
Nakamura T, Largaespada DA, Lee MP, Johnson LA, Ohyashiki K, Toyama K, Chen SJ, Willman CL, Chen IM, Feinberg AP, Jenkins NA, Copeland NG, Shaughnessy JD Jr
Nature genetics. 1996 ; 12 (2) : 154-158.
PMID 8563753
 

Contributor(s)

Written01-1999Jean-Loup Huret

Citation

This paper should be referenced as such :
Huret JL . t(7;11)(p15;p15). Atlas Genet Cytogenet Oncol Haematol. January 1999 .
URL : http://AtlasGeneticsOncology.org/Anomalies/t0711p15.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon May 12 18:12:32 2008


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