t(9;11)(p22;p15) NUP98/PSIP1

2007-05-01   Claudio Panarello , Cristina Morerio 

1.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

Atlas Image
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

Bibliography

Pubmed IDLast YearTitleAuthors
111037742000t(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
159827352005NUP98-LEDGF fusion and t(9;11) in transformed chronic myeloid leukemia.Grand FH et al
79230591994Biphenotypic leukemia with t(9;11)(p22;p15).Ha SY et al
117378602001Fusion of the NUP98 gene with the LEDGF/p52 gene defines a recurrent acute myeloid leukemia translocation.Hussey DJ et al
157254832005t(9;11)(p22;p15) with NUP98-LEDGF fusion gene in pediatric acute myeloid leukemia.Morerio C et al
107217202000Lens epithelium-derived growth factor (LEDGF/p75) and p52 are derived from a single gene by alternative splicing.Singh DP et al
169806222006Disruption 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;11)(p22;p15)

External Links