t(3;5)(q25;q34) NPM1/MLF1
2004-10-01 Roland Berger Affiliation1.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 ID | Year | Title | Citations |
|---|---|---|---|
| 31675375 | 2019 | NPM and NPM-MLF1 interact with chromatin remodeling complexes and influence their recruitment to specific genes. | 71 |
| 31648321 | 2019 | Transcriptome analysis offers a comprehensive illustration of the genetic background of pediatric acute myeloid leukemia. | 54 |
| 39443736 | 2025 | NPM1-fusion proteins promote myeloid leukemogenesis through XPO1-dependent HOX activation. | 35 |
| 25027285 | 2014 | Development of an NPM1/MLF1 D-FISH probe set for the detection of t(3;5)(q25;q35) identified in patients with acute myeloid leukemia. | 0 |
| 20471513 | 2010 | Detection of t(3;5) and NPM1/MLF1 rearrangement in an elderly patient with acute myeloid leukemia: clinical and laboratory study with review of the literature. | 0 |
| 16341035 | 2006 | Loss of the NPM1 gene in myeloid disorders with chromosome 5 rearrangements. | 0 |
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 14506644 | 2003 | Detection of NPM/MLF1 fusion in t(3;5)-positive acute myeloid leukemia and myelodysplasia. | Arber DA et al |
| 8435325 | 1993 | Clinical, haematological and cytogenetic features in 24 patients with structural rearrangements of the Q arm of chromosome 3. | Grigg AP et al |
| 2642576 | 1989 | Clinicopathologic manifestations and breakpoints of the t(3;5) in patients with acute nonlymphocytic leukemia. | Raimondi SC et al |
| 8570204 | 1996 | The 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
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)-npm1-mlf1
Historical Card
1997-08-01 t(3;5)(q25;q34) NPM1/MLF1 by Jean-Loup Huret Affiliation
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
