t(11;17)(p15;p13) NUP98/PHF23

2008-10-01   Jean-Loup Huret 

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

Clinics and Pathology

Disease

Acute myeloid leukaemia

Epidemiology

Only one case to date, a 42 year old male patient (Reader et al., 2007).

Evolution

The patient achieved complete remission for 11 months, but relapsed and died 3 months after.

Genes Involved and Proteins

Gene name
NUP98 (nucleoporin 98 kDa)
Location
11p15.4
Protein description
Nucleoporin: associated with the nuclear pore complex. Role in nucleocytoplasmic transport processes.
Gene name
PHF23 (PHD finger protein 23)
Location
17p13.1
Protein description
Recently discovered gene, which possess a plant homeodomain. Possible effect on chromatin structure and transcriptional regulation.

Result of the Chromosomal Anomaly

Transcript

NUP98 exon 13 fused in frame to PHF23 exon 4.

Description

NH2-term NUP98 including the Phe-Gly repeats, the GLEB domain fused to the coiled-coil domain and the plant homeodomain of PHF23 C-term.

Highly cited references

Pubmed IDYearTitleCitations
278891852016NUP98 Fusion Proteins Interact with the NSL and MLL1 Complexes to Drive Leukemogenesis.59
245356712014NUP98-PHF23 is a chromatin-modifying oncoprotein that causes a wide array of leukemias sensitive to inhibition of PHD histone reader function.36
172878532007A novel NUP98-PHF23 fusion resulting from a cryptic translocation t(11;17)(p15;p13) in acute myeloid leukemia.24
292968212017Progenitor B-1 B-cell acute lymphoblastic leukemia is associated with collaborative mutations in 3 critical pathways.12
309922672019Engineered Bcor mutations lead to acute leukemia of progenitor B-1 lymphocyte origin in a sensitized background.7
326207642020Mechanistic insights into chromatin targeting by leukemic NUP98-PHF23 fusion.5
202192462010Regulation of differentiation by a PHD domain in the NUP98-PHF23 fusion protein.5
260668112015Identification of the NUP98-PHF23 fusion gene in pediatric cytogenetically normal acute myeloid leukemia by whole-transcriptome sequencing.4
317486062019Thymic precursor cells generate acute myeloid leukemia in NUP98-PHF23/NUP98-HOXD13 double transgenic mice.3
270606782016NUP98-PHF23 fusion is recurrent in acute myeloid leukemia and shares gene expression signature of leukemic stem cells.2
278902532016A cryptic translocation leading to NUP98-PHF23 fusion in AML.1

Bibliography

Pubmed IDLast YearTitleAuthors
172878532007A novel NUP98-PHF23 fusion resulting from a cryptic translocation t(11;17)(p15;p13) in acute myeloid leukemia.Reader JC et al

Summary

Fusion gene

NUP98/PHF23 NUP98 (11p15.4) PHF23 (17p13.1) M t(11;17)(p15;p13)

Citation

Jean-Loup Huret

t(11;17)(p15;p13) NUP98/PHF23

Atlas Genet Cytogenet Oncol Haematol. 2008-10-01

Online version: http://atlasgeneticsoncology.org/haematological/2134/t(11;17)(p15;p13)

External Links