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t(3;5)(q25;q34) NPM1/MLF1

Written1997-08Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
Updated2004-10Roland Berger
Inserm U 434 and SD 401 No. 434 CNRS, Institut de Génétique Moléculaire, 27, rue Juliette Dodu, 75010 Paris, France

(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 9975/3 Chronic myelogenous leukaemia, BCR-ABL1 positive; Myeloproliferative neoplasm, unclassifiable; Myelodysplastic/myeloproliferative neoplasm, unclassifiable
ICD-Morpho 9989/3 Myelodysplastic syndrome, unclassifiable
Atlas_Id 1007
 
  t(3;5)(q25;q34) (R-banding) - Courtesy Jacques Boyer

Clinics and Pathology

Disease myeloproliferative disorders (MPS), myelodysplastic syndromes (MDS), and acute myeloid leukemia (AML)
Phenotype / cell stem origin M2, M4, M6 AML; 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
  

Bibliography

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
 
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
 
Clinicopathologic manifestations and breakpoints of the t(3;5) in patients with acute nonlymphocytic leukemia.
Raimondi SC, Dubé 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
 
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
 

Citation

This paper should be referenced as such :
Berger, R
t(3;5)(q25;q34)
Atlas Genet Cytogenet Oncol Haematol. 2004;8(4):328-329.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Anomalies/t0305ID1007.html
History of this paper:
Huret, JL. t(3;5)(q25;q34). Atlas Genet Cytogenet Oncol Haematol. 1997;1(1):18-18.
http://documents.irevues.inist.fr/bitstream/handle/2042/32030/08-1997-t0305ID1007.pdf


Other genes implicated (Data extracted from papers in the Atlas) [ 2 ]

Genes MLF1 NPM1

Translocations implicated (Data extracted from papers in the Atlas)

 t(3;5)(q25;q34) NPM1/MLF1

External links

NPM1 (5q35.1) MLF1 (3q25.32)

NPM1 (5q35.1) MLF1 (3q25.32)

Mitelman databaset(3;5)(q25;q34) [Case List]    t(3;5)(q25;q34) [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 ( 9975/3) - 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 databaseNPM1/MLF1 [MCList]  NPM1 (5q35.1) MLF1 (3q25.32)
TICdbNPM1/MLF1  NPM1 (5q35.1) MLF1 (3q25.32)
 
Disease databaset(3;5)(q25;q34) NPM1/MLF1
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed


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