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t(3;5)(q25;q34)

Identity

 
  t(3;5)(q25;q34) (R-banding) - Courtesy Jacques Boyer

Clinics and Pathology

Disease myeloproliferative disorders (MPS), myelodysplastic syndromes (MDS), and acute non lymphocytic leukemia (ANLL)
Phenotype / cell stem origin M2, M4, M6 ANLL; trilineage involvement
Epidemiology median age: 35 yrs; balanced sex ratio
Prognosis CR: 8/12, but median survival is less than 1 yr

Cytogenetics

Cytogenetics Morphological The breakpoints (3q25 and 5q34) have been controversial for a long time.
Additional anomalies most often none; +8

Genes involved and Proteins

Gene Name MLF1
Location 3q25
Protein 31 KDa; widely expressed; cytoplasmic localisation; possible role in normal hematopoietic differentiation
Gene Name NPM1
Location 5q34
Protein nuclear localisation; binds to single and double strand nucleic acids; phosphoprotein that may transport ribonucleoproteins; may also have a role in DNA replication nuclear phosphoprotein; role in centrosome duplication and various relations with other proteins like p53, ARF, ... (numerous interations are under study).

Result of the chromosomal anomaly

Hybrid gene
Description 5' NPM-3' MLF1 on der(5)
  
Fusion Protein
Description 54 kDa with the 175 N-term Amino acids from NPM
Expression Localisation nucleus, mainly in the nucleolus
  

External links

Other databaset(3;5)(q25;q34) Mitelman database (CGAP - NCBI)
Other databaset(3;5)(q25;q34) CancerChromosomes (NCBI)

Bibliography

Clinical, haematological and cytogenetic features in 24 patients with structural rearrangements of the Q arm of chromosome 3.
Grigg AP, Gascoyne RD, Phillips GL, Horsman DE
British journal of haematology. 1993 ; 83 (1) : 158-165.
PMID 8435325
 
The t(3;5)(q25.1;q34) of myelodysplastic syndrome and acute myeloid leukemia produces a novel fusion gene, NPM-MLF1.
Yoneda-Kato N, Look AT, Kirstein MN, Valentine MB, Raimondi SC, Cohen KJ, Carroll AJ, Morris SW
Oncogene. 1996 ; 12 (2) : 265-275.
PMID 8570204
 
Clinicopathologic manifestations and breakpoints of the t(3;5) in patients with acute nonlymphocytic leukemia.
Raimondi SC, Dubˆ© ID, Valentine MB, Mirro J Jr, Watt HJ, Larson RA, Bitter MA, Le Beau MM, Rowley JD
Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 1989 ; 3 (1) : 42-47.
PMID 2642576
 
Detection of NPM/MLF1 fusion in t(3;5)-positive acute myeloid leukemia and myelodysplasia.
Arber DA, Chang KL, Lyda MH, Bedell V, Spielberger R, Slovak ML
Human pathology. 2003 ; 34 (8) : 809-813.
PMID 14506644
 

Contributor(s)

Written08-1997Jean-Loup Huret
Updated10-2004Roland Berger

Citation

This paper should be referenced as such :
Huret JL . t(3;5)(q25;q34). Atlas Genet Cytogenet Oncol Haematol. August 1997 .
URL : http://AtlasGeneticsOncology.org/Anomalies/t0305.html
Berger R . t(3;5)(q25;q34). Atlas Genet Cytogenet Oncol Haematol. October 2004 .
URL : http://AtlasGeneticsOncology.org/Anomalies/t0305.html

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indexed on : Sat Feb 6 15:45:39 CET 2010

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