t(11;17)(p15;p13) NUP98/PHF23
2008-10-01 Jean-Loup Huret Affiliation1.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 ID | Year | Title | Citations |
|---|---|---|---|
| 29296821 | 2017 | Progenitor B-1 B-cell acute lymphoblastic leukemia is associated with collaborative mutations in 3 critical pathways. | 54 |
| 27889185 | 2016 | NUP98 Fusion Proteins Interact with the NSL and MLL1 Complexes to Drive Leukemogenesis. | 52 |
| 24535671 | 2014 | NUP98-PHF23 is a chromatin-modifying oncoprotein that causes a wide array of leukemias sensitive to inhibition of PHD histone reader function. | 50 |
| 31748606 | 2019 | Thymic precursor cells generate acute myeloid leukemia in NUP98-PHF23/NUP98-HOXD13 double transgenic mice. | 48 |
| 32620764 | 2020 | Mechanistic insights into chromatin targeting by leukemic NUP98-PHF23 fusion. | 36 |
| 30992267 | 2019 | Engineered Bcor mutations lead to acute leukemia of progenitor B-1 lymphocyte origin in a sensitized background. | 25 |
| 26066811 | 2015 | Identification of the NUP98-PHF23 fusion gene in pediatric cytogenetically normal acute myeloid leukemia by whole-transcriptome sequencing. | 10 |
| 27890253 | 2016 | A cryptic translocation leading to NUP98-PHF23 fusion in AML. | 0 |
| 27060678 | 2016 | NUP98-PHF23 fusion is recurrent in acute myeloid leukemia and shares gene expression signature of leukemic stem cells. | 0 |
| 20219246 | 2010 | Regulation of differentiation by a PHD domain in the NUP98-PHF23 fusion protein. | 0 |
| 39922194 | 2025 | The phenylalanine-and-glycine repeats of NUP98 oncofusions form condensates that selectively partition transcriptional coactivators. | 0 |
| 39883527 | 2025 | HoxBlinc lncRNA reprograms CTCF-independent TADs to drive leukemic transcription and HSC dysregulation in NUP98-rearranged leukemia. | 0 |
| 17287853 | 2007 | A novel NUP98-PHF23 fusion resulting from a cryptic translocation t(11;17)(p15;p13) in acute myeloid leukemia. | 0 |
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 17287853 | 2007 | A 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)-nup98-phf23
