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

Highly cited references

Pubmed IDYearTitleCitations
316483212019Transcriptome analysis offers a comprehensive illustration of the genetic background of pediatric acute myeloid leukemia.17

Bibliography

Pubmed IDLast YearTitleAuthors

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/js/teaching-explorer/

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