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

2004-10-01   Roland Berger 

1.Inserm U 434 and SD 401 No. 434 CNRS, Institut de Génétique Moléculaire, 27, rue Juliette Dodu, 75010 Paris, France
2.Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

Clinics and Pathology

Disease

myeloproliferative disorders (MPS), myelodysplastic syndromes (MDS), and acute myeloid leukemia (AML)

Phenotype stem cell 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 (myelodysplasia/myeloid leukemia factor 1)
Location
3q25.32
Protein description
31 KDa; widely expressed; cytoplasmic localisation; possible role in normal hematopoietic differentiation
Gene name
NPM1 (nucleophosmin)
Location
5q35.1
Protein description
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

Description

5 NPM-3 MLF1 on der(5)54 kDa with the 175 N-term Amino acids from NPM

Expression localisation

nucleus, mainly in the nucleolus

Bibliography

Pubmed IDLast YearTitleAuthors
145066442003Detection of NPM/MLF1 fusion in t(3;5)-positive acute myeloid leukemia and myelodysplasia.Arber DA et al
84353251993Clinical, haematological and cytogenetic features in 24 patients with structural rearrangements of the Q arm of chromosome 3.Grigg AP et al
26425761989Clinicopathologic manifestations and breakpoints of the t(3;5) in patients with acute nonlymphocytic leukemia.Raimondi SC et al
85702041996The t(3;5)(q25.1;q34) of myelodysplastic syndrome and acute myeloid leukemia produces a novel fusion gene, NPM-MLF1.Yoneda-Kato N et al

Summary

Fusion gene

NPM1/MLF1 NPM1 (5q35.1) MLF1 (3q25.32) M ins(3;5)(q25;q31q35) t(3;5)(q25;q35)|NPM1/MLF1 NPM1 (5q35.1) MLF1 (3q25.32) TIC
Atlas Image
t(3;5)(q25;q34) (R-banding) - Courtesy Jacques Boyer

Citation

Roland Berger

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

Atlas Genet Cytogenet Oncol Haematol. 2004-10-01

Online version: http://atlasgeneticsoncology.org/haematological/1007/t(3;5)(q25;q34)

Historical Card

1997-08-01 t(3;5)(q25;q34) NPM1/MLF1 by  Jean-Loup Huret 

Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

External Links