t(9;11)(p22;p15) NUP98/PSIP1
2007-05-01 Claudio Panarello , Cristina Morerio Affiliation1.Dipartimento di Ematologia ed Oncologia Pediatrica, IRCCS Istituto Giannina Gaslini, Largo G. Gaslini 5, 16147 Genoa, Italy
Clinics and Pathology
Disease
Acute non lymphoblastic leukemia (AML), one case of transformed chronic myeloid leukemia (CML-BC).
Phenotype stem cell origin
AML FAB TYPE M1, M2, M2/M3
Epidemiology
Five cases reported to date: four adults and one 5-year-old girl.
Prognosis
Unfavorable outcome
Cytogenetics
A) Partial Q-banded karyotype showing the t(9;11)(p22;p15); derivative chromosomes are on the right of each pair. B) FISH analysis using PAC 1173K1 (NUP98) and RP11-356J15 (PSIP1) probes (green and red signals, respectively). Arrow and arrowhead indicate the fusion signals on the der(9) and the der(11), respectively.
Additional anomalies
Sole anomaly in the four AML cases, t(9;11) in addition to the t(9;22) in the CML-BC case.
Genes Involved and Proteins
Gene name
NUP98 (nucleoporin 98 kDa)
Location
11p15.4
Protein description
Nucleoporin 98, a 98 kDa component of the nuclear pore complex involved in nucleo-cytoplasmic transport.
Gene name
PSIP1 (PC4 and SFRS1 interacting protein 1)
Location
9p22.3
Note
The gene contains at least 15 exons and 14 introns
Dna rna description
Two alternative splice variants: p75 and p52
Protein description
Chromatin-associated protein involved in trascriptional regulation, mRNA splicing and cell survival in vitro. Contains a PWWP domain and AT hook-like motifs.
Result of the Chromosomal Anomaly
Description
5NUP98 - 3PSIP1; The breakpoint in the NUP98 gene is the same in three out of four cases studied (nucleotide 1230), while the breakpoints in PSIP1 are variable.It fuses the GLFG repeat domains of NUP98 to the COOH-terminal of the PSIP1
Highly cited references
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 39344146 | 2025 | Rare Non-Cryptic NUP98 Rearrangements Associated With Myeloid Neoplasms and Their Poor Prognostic Impact. | 25 |
| 22103895 | 2012 | Expression of the novel NUP98/PSIP1 fusion transcripts in myelodysplastic syndrome with t(9;11)(p22;p15). | 0 |
| 21168209 | 2011 | t(9;11)(p22;p15) [NUP98/PSIP1] is a poor prognostic marker associated with de novo acute myeloid leukaemia expressing both mature and immature surface antigens. | 0 |
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 11103774 | 2000 | t(9;11)(p22;p15) in acute myeloid leukemia results in a fusion between NUP98 and the gene encoding transcriptional coactivators p52 and p75-lens epithelium-derived growth factor (LEDGF). | Ahuja HG et al |
| 15982735 | 2005 | NUP98-LEDGF fusion and t(9;11) in transformed chronic myeloid leukemia. | Grand FH et al |
| 7923059 | 1994 | Biphenotypic leukemia with t(9;11)(p22;p15). | Ha SY et al |
| 11737860 | 2001 | Fusion of the NUP98 gene with the LEDGF/p52 gene defines a recurrent acute myeloid leukemia translocation. | Hussey DJ et al |
| 15725483 | 2005 | t(9;11)(p22;p15) with NUP98-LEDGF fusion gene in pediatric acute myeloid leukemia. | Morerio C et al |
| 10721720 | 2000 | Lens epithelium-derived growth factor (LEDGF/p75) and p52 are derived from a single gene by alternative splicing. | Singh DP et al |
| 16980622 | 2006 | Disruption of Ledgf/Psip1 results in perinatal mortality and homeotic skeletal transformations. | Sutherland HG et al |
Summary
Fusion gene
NUP98/PSIP1 NUP98 (11p15.4) PSIP1 (9p22.3) M t(9;11)(p22;p15)|NUP98/PSIP1 NUP98 (11p15.4) PSIP1 (9p22.3) TIC
Note
rare abnormality
Citation
Claudio Panarello ; Cristina Morerio
t(9;11)(p22;p15) NUP98/PSIP1
Atlas Genet Cytogenet Oncol Haematol. 2007-05-01
Online version: http://atlasgeneticsoncology.org/haematological/1232/t(9
