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

Written2004-10Roland Berger
Inserm U 434 and SD 401 No. 434 CNRS, Institut de Génétique Moléculaire, 27, rue Juliette Dodu, 75010 Paris, France
This article is an update of :
1997-08Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)


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

Genes involved and Proteins

Gene NameMLF1 (myelodysplasia/myeloid leukemia factor 1)
Location 3q25.32
Protein 31 KDa; widely expressed; cytoplasmic localisation; possible role in normal hematopoietic differentiation
Gene NameNPM1 (nucleophosmin)
Location 5q35.1
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


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


This paper should be referenced as such :
Berger, R
Atlas Genet Cytogenet Oncol Haematol. 2004;8(4):328-329.
Free journal version : [ pdf ]   [ DOI ]
On line version :
History of this paper:
Huret, JL. t(3;5)(q25;q34). Atlas Genet Cytogenet Oncol Haematol. 1997;1(1):18-18.

Other genes implicated (Data extracted from papers in the Atlas) [ 3 ]


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)
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9861/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9975/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9989/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
Mitelman databaseNPM1::MLF1 [MCList]  NPM1 (5q35.1) MLF1 (3q25.32)
REVIEW articlesautomatic search in PubMed
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