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.

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